Canonical Allele Identifier: CA355254687

Gene: B3GALNT1

Linked Data

• MyVariant Identifiers: chr3:g.160803564T>G (hg19) ; chr3:g.161085776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.161085776T>G , CM000665.2:g.161085776T>G	GRCh38
NC_000003.11:g.160803564T>G , CM000665.1:g.160803564T>G	GRCh37
NC_000003.10:g.162286258T>G	NCBI36
NG_007854.1:g.24597A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320474.10:c.979A>C MANE Select	ENSP00000323479.4:p.Thr327Pro
ENST00000392781.7:c.979A>C	ENSP00000376532.2:p.Thr327Pro
ENST00000417187.2:c.*97A>C	ENSP00000407027.2:n.*97A>C
ENST00000476999.6:c.*97A>C	ENSP00000498840.1:n.*97A>C
ENST00000494173.7:c.259A>C	ENSP00000419127.3:p.Thr87Pro
ENST00000494818.6:c.*97A>C	ENSP00000498378.1:n.*97A>C
ENST00000496295.6:n.578A>C
ENST00000650695.1:c.979A>C	ENSP00000498902.1:p.Thr327Pro
ENST00000650733.1:c.979A>C	ENSP00000499186.1:p.Thr327Pro
ENST00000651117.1:c.979A>C	ENSP00000498854.1:p.Thr327Pro
ENST00000651147.1:c.979A>C	ENSP00000498478.1:p.Thr327Pro
ENST00000651178.1:c.979A>C	ENSP00000498982.1:p.Thr327Pro
ENST00000651254.1:c.979A>C	ENSP00000498553.1:p.Thr327Pro
ENST00000651282.1:c.589A>C	ENSP00000498435.1:p.Thr197Pro
ENST00000651292.1:c.979A>C	ENSP00000498542.1:p.Thr327Pro
ENST00000651305.1:c.979A>C	ENSP00000498427.1:p.Thr327Pro
ENST00000651379.1:c.979A>C	ENSP00000498978.1:p.Thr327Pro
ENST00000651380.1:c.979A>C	ENSP00000499072.1:p.Thr327Pro
ENST00000651422.1:n.3249A>C
ENST00000651430.1:c.259A>C	ENSP00000499079.1:p.Thr87Pro
ENST00000651460.1:c.979A>C	ENSP00000498369.1:p.Thr327Pro
ENST00000651509.1:c.979A>C	ENSP00000499003.1:p.Thr327Pro
ENST00000651686.1:c.979A>C	ENSP00000498346.1:p.Thr327Pro
ENST00000651689.1:c.979A>C	ENSP00000499010.1:p.Thr327Pro
ENST00000651791.1:c.979A>C	ENSP00000499180.1:p.Thr327Pro
ENST00000651801.1:c.259A>C	ENSP00000498243.1:p.Thr87Pro
ENST00000651916.1:c.979A>C	ENSP00000498487.1:p.Thr327Pro
ENST00000651953.1:c.979A>C	ENSP00000498633.1:p.Thr327Pro
ENST00000651972.1:c.979A>C	ENSP00000498907.1:p.Thr327Pro
ENST00000652032.1:c.979A>C	ENSP00000498901.1:p.Thr327Pro
ENST00000652059.1:c.979A>C	ENSP00000498743.1:p.Thr327Pro
ENST00000652111.1:c.979A>C	ENSP00000498689.1:p.Thr327Pro
ENST00000652134.1:n.1609A>C
ENST00000652143.1:c.979A>C	ENSP00000498655.1:p.Thr327Pro
ENST00000652377.1:c.979A>C	ENSP00000498481.1:p.Thr327Pro
ENST00000652593.1:c.*97A>C	ENSP00000498331.1:n.*97A>C
ENST00000652596.1:c.979A>C	ENSP00000498810.1:p.Thr327Pro
ENST00000652669.1:c.979A>C	ENSP00000498696.1:p.Thr327Pro
ENST00000652730.1:c.979A>C	ENSP00000498660.1:p.Thr327Pro
ENST00000320474.8:c.979A>C	ENSP00000323479.4:p.Thr327Pro
ENST00000392779.6:c.979A>C	ENSP00000376530.2:p.Thr327Pro
ENST00000392781.6:c.979A>C	ENSP00000376532.2:p.Thr327Pro
ENST00000417187.1:c.259A>C	ENSP00000407027.1:p.Thr87Pro
ENST00000473285.5:c.979A>C	ENSP00000418226.1:p.Thr327Pro
ENST00000488170.5:c.979A>C	ENSP00000420163.1:p.Thr327Pro
NM_001038628.1:c.979A>C	NP_001033717.1:p.Thr327Pro
NM_003781.3:c.979A>C	NP_003772.1:p.Thr327Pro
NM_033167.2:c.979A>C	NP_149357.1:p.Thr327Pro
NM_033168.2:c.979A>C	NP_149358.1:p.Thr327Pro
NM_033169.2:c.979A>C	NP_149359.1:p.Thr327Pro
XM_005247859.3:c.979A>C	XP_005247916.1:p.Thr327Pro
XM_005247861.2:c.979A>C	XP_005247918.1:p.Thr327Pro
XM_005247862.2:c.979A>C	XP_005247919.1:p.Thr327Pro
XM_005247864.2:c.979A>C	XP_005247921.1:p.Thr327Pro
XM_006713803.2:c.979A>C	XP_006713866.1:p.Thr327Pro
XM_006713804.2:c.979A>C	XP_006713867.1:p.Thr327Pro
XM_006713805.2:c.979A>C	XP_006713868.1:p.Thr327Pro
XM_011513261.1:c.979A>C	XP_011511563.1:p.Thr327Pro
NM_001349130.1:c.979A>C	NP_001336059.1:p.Thr327Pro
NM_001349131.1:c.979A>C	NP_001336060.1:p.Thr327Pro
NM_001349132.1:c.979A>C	NP_001336061.1:p.Thr327Pro
NM_001349133.1:c.979A>C	NP_001336062.1:p.Thr327Pro
NM_001349134.1:c.979A>C	NP_001336063.1:p.Thr327Pro
NM_001349135.1:c.979A>C	NP_001336064.1:p.Thr327Pro
NM_001349136.1:c.979A>C	NP_001336065.1:p.Thr327Pro
NM_001349137.1:c.979A>C	NP_001336066.1:p.Thr327Pro
NM_001349138.1:c.979A>C	NP_001336067.1:p.Thr327Pro
NM_001349139.1:c.979A>C	NP_001336068.1:p.Thr327Pro
NM_001349140.1:c.979A>C	NP_001336069.1:p.Thr327Pro
NM_001349141.1:c.979A>C	NP_001336070.1:p.Thr327Pro
NM_001349142.1:c.979A>C	NP_001336071.1:p.Thr327Pro
NM_001349143.1:c.979A>C	NP_001336072.1:p.Thr327Pro
NM_001349144.1:c.979A>C	NP_001336073.1:p.Thr327Pro
NM_001349145.1:c.979A>C	NP_001336074.1:p.Thr327Pro
NM_001349146.1:c.979A>C	NP_001336075.1:p.Thr327Pro
NM_001349147.1:c.979A>C	NP_001336076.1:p.Thr327Pro
NM_001349148.1:c.979A>C	NP_001336077.1:p.Thr327Pro
NM_001349149.1:c.979A>C	NP_001336078.1:p.Thr327Pro
NM_001349150.1:c.979A>C	NP_001336079.1:p.Thr327Pro
NM_001349151.1:c.979A>C	NP_001336080.1:p.Thr327Pro
NM_001349152.1:c.979A>C	NP_001336081.1:p.Thr327Pro
NM_001349153.1:c.979A>C	NP_001336082.1:p.Thr327Pro
NM_001349154.1:c.979A>C	NP_001336083.1:p.Thr327Pro
NM_001349155.1:c.979A>C	NP_001336084.1:p.Thr327Pro
NM_001349156.1:c.979A>C	NP_001336085.1:p.Thr327Pro
NM_001349157.1:c.979A>C	NP_001336086.1:p.Thr327Pro
NM_001349158.1:c.979A>C	NP_001336087.1:p.Thr327Pro
NM_001349159.1:c.979A>C	NP_001336088.1:p.Thr327Pro
NM_001349160.1:c.979A>C	NP_001336089.1:p.Thr327Pro
NM_001349161.1:c.979A>C	NP_001336090.1:p.Thr327Pro
NM_001349162.1:c.1339A>C	NP_001336091.1:p.Thr447Pro
NM_001349163.1:c.1339A>C	NP_001336092.1:p.Thr447Pro
XM_005247859.5:c.979A>C	XP_005247916.1:p.Thr327Pro
XM_024453808.1:c.979A>C	XP_024309576.1:p.Thr327Pro
NM_003781.4:c.979A>C MANE Select	NP_003772.1:p.Thr327Pro
NM_001038628.2:c.979A>C	NP_001033717.1:p.Thr327Pro
NM_001349130.2:c.979A>C	NP_001336059.1:p.Thr327Pro
NM_001349131.2:c.979A>C	NP_001336060.1:p.Thr327Pro
NM_001349132.2:c.979A>C	NP_001336061.1:p.Thr327Pro
NM_001349133.2:c.979A>C	NP_001336062.1:p.Thr327Pro
NM_001349134.2:c.979A>C	NP_001336063.1:p.Thr327Pro
NM_001349135.2:c.979A>C	NP_001336064.1:p.Thr327Pro
NM_001349136.2:c.979A>C	NP_001336065.1:p.Thr327Pro
NM_001349137.2:c.979A>C	NP_001336066.1:p.Thr327Pro
NM_001349138.2:c.979A>C	NP_001336067.1:p.Thr327Pro
NM_001349139.2:c.979A>C	NP_001336068.1:p.Thr327Pro
NM_001349140.2:c.979A>C	NP_001336069.1:p.Thr327Pro
NM_001349141.2:c.979A>C	NP_001336070.1:p.Thr327Pro
NM_001349142.2:c.979A>C	NP_001336071.1:p.Thr327Pro
NM_001349143.2:c.979A>C	NP_001336072.1:p.Thr327Pro
NM_001349144.2:c.979A>C	NP_001336073.1:p.Thr327Pro
NM_001349145.2:c.979A>C	NP_001336074.1:p.Thr327Pro
NM_001349146.2:c.979A>C	NP_001336075.1:p.Thr327Pro
NM_001349147.2:c.979A>C	NP_001336076.1:p.Thr327Pro
NM_001349148.2:c.979A>C	NP_001336077.1:p.Thr327Pro
NM_001349149.2:c.979A>C	NP_001336078.1:p.Thr327Pro
NM_001349150.2:c.979A>C	NP_001336079.1:p.Thr327Pro
NM_001349151.2:c.979A>C	NP_001336080.1:p.Thr327Pro
NM_001349152.2:c.979A>C	NP_001336081.1:p.Thr327Pro
NM_001349153.2:c.979A>C	NP_001336082.1:p.Thr327Pro
NM_001349154.2:c.979A>C	NP_001336083.1:p.Thr327Pro
NM_001349155.2:c.979A>C	NP_001336084.1:p.Thr327Pro
NM_001349156.2:c.979A>C	NP_001336085.1:p.Thr327Pro
NM_001349157.2:c.979A>C	NP_001336086.1:p.Thr327Pro
NM_001349158.2:c.979A>C	NP_001336087.1:p.Thr327Pro
NM_001349159.2:c.979A>C	NP_001336088.1:p.Thr327Pro
NM_001349161.2:c.979A>C	NP_001336090.1:p.Thr327Pro
NM_001349162.2:c.1339A>C	NP_001336091.1:p.Thr447Pro
NM_001349163.2:c.1339A>C	NP_001336092.1:p.Thr447Pro
NM_033167.3:c.979A>C	NP_149357.1:p.Thr327Pro
NM_033168.3:c.979A>C	NP_149358.1:p.Thr327Pro
NM_033169.3:c.979A>C	NP_149359.1:p.Thr327Pro