Canonical Allele Identifier: CA3066015

Gene: BLTP1

Linked Data

• dbSNP Id: rs373269273
• ExAC: 4:123147986 C / T
• gnomAD v2: 4-123147986-C-T
• gnomAD v3: 4-122226831-C-T
• gnomAD v4: 4-122226831-C-T
• MyVariant Identifiers: chr4:g.123147986C>T (hg19) ; chr4:g.122226831C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122226831C>T , CM000666.2:g.122226831C>T	GRCh38
NC_000004.11:g.123147986C>T , CM000666.1:g.123147986C>T	GRCh37
NC_000004.10:g.123367436C>T	NCBI36
NG_015813.1:g.61229C>T
NG_015813.2:g.61229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388738.8:c.2918C>T	ENSP00000373390.4:p.Ser973Phe
ENST00000424425.6:c.1017C>T
ENST00000684987.1:n.3241C>T
ENST00000686075.1:n.3241C>T
ENST00000687476.1:n.3059C>T
ENST00000689316.1:n.1383C>T
ENST00000690536.1:n.3241C>T
ENST00000693334.1:n.3241C>T
ENST00000693420.1:c.2918C>T	ENSP00000509435.1:p.Ser973Phe
ENST00000679879.1:c.2918C>T MANE Select	ENSP00000505357.1:p.Ser973Phe
ENST00000264501.8:c.2918C>T	ENSP00000264501.4:p.Ser973Phe
ENST00000388738.7:c.2918C>T	ENSP00000373390.3:p.Ser973Phe
ENST00000424425.5:c.2412C>T
ENST00000449251.1:c.417+2154C>T	ENSP00000413018.1:n.417+2154C>T
ENST00000482114.1:n.3180C>T
ENST00000495260.5:n.1616C>T
NM_015312.3:c.2918C>T	NP_056127.2:p.Ser973Phe
XM_005263282.1:c.2918C>T	XP_005263339.1:p.Ser973Phe
XM_005263287.1:c.2918C>T	XP_005263344.1:p.Ser973Phe
XM_006714343.1:c.2918C>T	XP_006714406.1:p.Ser973Phe
XM_006714344.1:c.2915C>T	XP_006714407.1:p.Ser972Phe
XM_011532319.1:c.2918C>T	XP_011530621.1:p.Ser973Phe
XM_011532320.1:c.2918C>T	XP_011530622.1:p.Ser973Phe
XM_011532321.1:c.2918C>T	XP_011530623.1:p.Ser973Phe
XM_011532322.1:c.2915C>T	XP_011530624.1:p.Ser972Phe
XM_011532323.1:c.2918C>T	XP_011530625.1:p.Ser973Phe
XM_011532324.1:c.2918C>T	XP_011530626.1:p.Ser973Phe
XM_011532325.1:c.2918C>T	XP_011530627.1:p.Ser973Phe
XM_011532326.1:c.2793+2154C>T	XP_011530628.1:n.2793+2154C>T
XM_011532327.1:c.2768C>T	XP_011530629.1:p.Ser923Phe
XM_011532328.1:c.2918C>T	XP_011530630.1:p.Ser973Phe
XM_011532329.1:c.2918C>T	XP_011530631.1:p.Ser973Phe
XM_011532330.1:c.1169C>T	XP_011530632.1:p.Ser390Phe
XM_011532331.1:c.2918C>T	XP_011530633.1:p.Ser973Phe
XR_938781.1:n.3291C>T
XR_938782.1:n.3291C>T
XR_938783.1:n.3291C>T
XM_011532320.3:c.2918C>T	XP_011530622.1:p.Ser973Phe
XM_011532321.2:c.2918C>T	XP_011530623.1:p.Ser973Phe
XM_017008695.1:c.2918C>T	XP_016864184.1:p.Ser973Phe
XM_017008696.1:c.2918C>T	XP_016864185.1:p.Ser973Phe
XM_017008697.1:c.2918C>T	XP_016864186.1:p.Ser973Phe
XM_017008698.1:c.149C>T	XP_016864187.1:p.Ser50Phe
XM_017008699.1:c.2918C>T	XP_016864188.1:p.Ser973Phe
XM_024454243.1:c.1070C>T	XP_024310011.1:p.Ser357Phe
XR_001741335.2:n.3291C>T
XR_001741336.1:n.3291C>T
XR_001741337.1:n.3291C>T
NM_001384125.1:c.2918C>T MANE Select	NP_001371054.1:p.Ser973Phe
NM_015312.4:c.2918C>T	NP_056127.2:p.Ser973Phe