Canonical Allele Identifier: CA340175415

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192382-G-T
• MyVariant Identifiers: chr1:g.46658054G>T (hg19) ; chr1:g.46192382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192382G>T , CM000663.2:g.46192382G>T	GRCh38
NC_000001.10:g.46658054G>T , CM000663.1:g.46658054G>T	GRCh37
NC_000001.9:g.46430641G>T	NCBI36
NG_009205.2:g.32924C>A
NG_009205.3:g.32924C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1339C>A (POMGNT1)	ENSP00000379698.4:p.Pro447Thr
ENST00000477114.2:n.1901C>A (POMGNT1)
ENST00000497439.6:n.1511C>A (POMGNT1)
ENST00000684817.1:n.1699C>A (POMGNT1)
ENST00000684898.1:n.1901C>A (POMGNT1)
ENST00000685230.1:c.*649C>A (POMGNT1)	ENSP00000510305.1:n.*649C>A
ENST00000685275.1:n.1886C>A (POMGNT1)
ENST00000685444.1:c.1240C>A (POMGNT1)	ENSP00000510762.1:p.Pro414Thr
ENST00000685704.1:n.1901C>A (POMGNT1)
ENST00000685775.1:n.2866C>A (POMGNT1)
ENST00000685833.1:n.2217C>A (POMGNT1)
ENST00000686252.1:n.2413C>A (POMGNT1)
ENST00000686379.1:c.*463C>A (POMGNT1)	ENSP00000508913.1:n.*463C>A
ENST00000686724.1:n.1511C>A (POMGNT1)
ENST00000686737.1:c.1339C>A (POMGNT1)	ENSP00000508736.1:p.Pro447Thr
ENST00000687112.1:n.2205C>A (POMGNT1)
ENST00000687149.1:c.1339C>A (POMGNT1)	ENSP00000509745.1:p.Pro447Thr
ENST00000687197.1:c.*279C>A (POMGNT1)	ENSP00000510749.1:n.*279C>A
ENST00000687235.1:n.1901C>A (POMGNT1)
ENST00000687613.1:n.2089C>A (POMGNT1)
ENST00000687683.1:c.1339C>A (POMGNT1)	ENSP00000508522.1:p.Pro447Thr
ENST00000688032.1:n.1901C>A (POMGNT1)
ENST00000688596.1:n.1990C>A (POMGNT1)
ENST00000688608.1:c.1240C>A (POMGNT1)	ENSP00000508890.1:p.Pro414Thr
ENST00000688919.1:n.2535C>A (POMGNT1)
ENST00000689031.1:n.1901C>A (POMGNT1)
ENST00000689717.1:n.1511C>A (POMGNT1)
ENST00000689756.1:c.*971C>A (POMGNT1)	ENSP00000509023.1:n.*971C>A
ENST00000690377.1:n.1686C>A (POMGNT1)
ENST00000690678.1:c.1339C>A (POMGNT1)	ENSP00000508703.1:p.Pro447Thr
ENST00000691209.1:c.*279C>A (POMGNT1)	ENSP00000510112.1:n.*279C>A
ENST00000691243.1:c.1339C>A (POMGNT1)	ENSP00000510654.1:p.Pro447Thr
ENST00000692169.1:n.1488C>A (POMGNT1)
ENST00000692202.1:n.1914C>A (POMGNT1)
ENST00000692322.1:c.*1191C>A (POMGNT1)	ENSP00000509017.1:n.*1191C>A
ENST00000692369.1:c.1339C>A (POMGNT1)	ENSP00000508453.1:p.Pro447Thr
ENST00000692599.1:n.1901C>A (POMGNT1)
ENST00000692635.1:c.*279C>A (POMGNT1)	ENSP00000508425.1:n.*279C>A
ENST00000693168.1:n.1600C>A (POMGNT1)
ENST00000693218.1:c.1339C>A (POMGNT1)	ENSP00000510577.1:p.Pro447Thr
ENST00000693223.1:n.2287C>A (POMGNT1)
ENST00000693365.1:n.3973C>A (POMGNT1)
ENST00000371984.8:c.1339C>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro447Thr
ENST00000371984.7:c.1339C>A (POMGNT1)	ENSP00000361052.3:p.Pro447Thr
ENST00000371992.1:c.1339C>A (POMGNT1)	ENSP00000361060.1:p.Pro447Thr
ENST00000396420.7:c.*1008C>A (POMGNT1)	ENSP00000379698.3:n.*1008C>A
ENST00000485714.1:n.725C>A (POMGNT1)
NM_001243766.1:c.1339C>A (POMGNT1)	NP_001230695.1:p.Pro447Thr
NM_001290129.1:c.1273C>A (POMGNT1)	NP_001277058.1:p.Pro425Thr
NM_001290130.1:c.910C>A (POMGNT1)	NP_001277059.1:p.Pro304Thr
NM_017739.3:c.1339C>A (POMGNT1)	NP_060209.3:p.Pro447Thr
XM_005271010.1:c.1339C>A (POMGNT1)	XP_005271067.1:p.Pro447Thr
XM_006710755.1:c.1339C>A (POMGNT1)	XP_006710818.1:p.Pro447Thr
XM_006710756.1:c.1339C>A (POMGNT1)	XP_006710819.1:p.Pro447Thr
XM_011540460.1:c.679-3820G>T (TSPAN1)	XP_011538762.1:n.679-3820G>T
XM_011540461.1:c.634-3820G>T (TSPAN1)	XP_011538763.1:n.634-3820G>T
XM_011541759.1:c.1273C>A (POMGNT1)	XP_011540061.1:p.Pro425Thr
XM_011541760.1:c.1273C>A (POMGNT1)	XP_011540062.1:p.Pro425Thr
XM_011541761.1:c.247C>A (POMGNT1)	XP_011540063.1:p.Pro83Thr
XR_946706.1:n.1499C>A (POMGNT1)
XM_011540460.3:c.679-3820G>T (TSPAN1)	XP_011538762.1:n.679-3820G>T
XM_011541760.3:c.1273C>A (POMGNT1)	XP_011540062.1:p.Pro425Thr
XM_017001690.1:c.1339C>A (POMGNT1)	XP_016857179.1:p.Pro447Thr
NM_001243766.2:c.1339C>A (POMGNT1)	NP_001230695.2:p.Pro447Thr
NM_001290129.2:c.1273C>A (POMGNT1)	NP_001277058.2:p.Pro425Thr
NM_001290130.2:c.910C>A (POMGNT1)	NP_001277059.2:p.Pro304Thr
NM_017739.4:c.1339C>A (POMGNT1) MANE Select	NP_060209.4:p.Pro447Thr