Canonical Allele Identifier: CA358080535

Gene: BLTP1

Linked Data

• MyVariant Identifiers: chr4:g.123147981T>G (hg19) ; chr4:g.122226826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122226826T>G , CM000666.2:g.122226826T>G	GRCh38
NC_000004.11:g.123147981T>G , CM000666.1:g.123147981T>G	GRCh37
NC_000004.10:g.123367431T>G	NCBI36
NG_015813.1:g.61224T>G
NG_015813.2:g.61224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388738.8:c.2913T>G	ENSP00000373390.4:p.Cys971Trp
ENST00000424425.6:c.1012T>G
ENST00000684987.1:n.3236T>G
ENST00000686075.1:n.3236T>G
ENST00000687476.1:n.3054T>G
ENST00000689316.1:n.1378T>G
ENST00000690536.1:n.3236T>G
ENST00000693334.1:n.3236T>G
ENST00000693420.1:c.2913T>G	ENSP00000509435.1:p.Cys971Trp
ENST00000679879.1:c.2913T>G MANE Select	ENSP00000505357.1:p.Cys971Trp
ENST00000264501.8:c.2913T>G	ENSP00000264501.4:p.Cys971Trp
ENST00000388738.7:c.2913T>G	ENSP00000373390.3:p.Cys971Trp
ENST00000424425.5:c.2407T>G
ENST00000449251.1:c.417+2149T>G	ENSP00000413018.1:n.417+2149T>G
ENST00000482114.1:n.3175T>G
ENST00000495260.5:n.1611T>G
NM_015312.3:c.2913T>G	NP_056127.2:p.Cys971Trp
XM_005263282.1:c.2913T>G	XP_005263339.1:p.Cys971Trp
XM_005263287.1:c.2913T>G	XP_005263344.1:p.Cys971Trp
XM_006714343.1:c.2913T>G	XP_006714406.1:p.Cys971Trp
XM_006714344.1:c.2910T>G	XP_006714407.1:p.Cys970Trp
XM_011532319.1:c.2913T>G	XP_011530621.1:p.Cys971Trp
XM_011532320.1:c.2913T>G	XP_011530622.1:p.Cys971Trp
XM_011532321.1:c.2913T>G	XP_011530623.1:p.Cys971Trp
XM_011532322.1:c.2910T>G	XP_011530624.1:p.Cys970Trp
XM_011532323.1:c.2913T>G	XP_011530625.1:p.Cys971Trp
XM_011532324.1:c.2913T>G	XP_011530626.1:p.Cys971Trp
XM_011532325.1:c.2913T>G	XP_011530627.1:p.Cys971Trp
XM_011532326.1:c.2793+2149T>G	XP_011530628.1:n.2793+2149T>G
XM_011532327.1:c.2763T>G	XP_011530629.1:p.Cys921Trp
XM_011532328.1:c.2913T>G	XP_011530630.1:p.Cys971Trp
XM_011532329.1:c.2913T>G	XP_011530631.1:p.Cys971Trp
XM_011532330.1:c.1164T>G	XP_011530632.1:p.Cys388Trp
XM_011532331.1:c.2913T>G	XP_011530633.1:p.Cys971Trp
XR_938781.1:n.3286T>G
XR_938782.1:n.3286T>G
XR_938783.1:n.3286T>G
XM_011532320.3:c.2913T>G	XP_011530622.1:p.Cys971Trp
XM_011532321.2:c.2913T>G	XP_011530623.1:p.Cys971Trp
XM_017008695.1:c.2913T>G	XP_016864184.1:p.Cys971Trp
XM_017008696.1:c.2913T>G	XP_016864185.1:p.Cys971Trp
XM_017008697.1:c.2913T>G	XP_016864186.1:p.Cys971Trp
XM_017008698.1:c.144T>G	XP_016864187.1:p.Cys48Trp
XM_017008699.1:c.2913T>G	XP_016864188.1:p.Cys971Trp
XM_024454243.1:c.1065T>G	XP_024310011.1:p.Cys355Trp
XR_001741335.2:n.3286T>G
XR_001741336.1:n.3286T>G
XR_001741337.1:n.3286T>G
NM_001384125.1:c.2913T>G MANE Select	NP_001371054.1:p.Cys971Trp
NM_015312.4:c.2913T>G	NP_056127.2:p.Cys971Trp