Canonical Allele Identifier: CA2210121673

Gene: ABCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134395C= , CM000678.2:g.16134395C=	GRCh38
NC_000016.9:g.16228252C= , CM000678.1:g.16228252C=	GRCh37
NC_000016.8:g.16135753C=	NCBI36
NG_028268.1:g.189819C=
NG_028268.2:g.189819C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4042C=	ENSP00000382340.4:p.Leu1348=
ENST00000399410.8:c.4012C= MANE Select	ENSP00000382342.3:p.Leu1338=
ENST00000572882.3:c.3835C=	ENSP00000461615.2:p.Leu1279=
ENST00000676806.1:n.738C=
ENST00000677164.1:c.3541C=	ENSP00000502873.1:p.Leu1181=
ENST00000678422.1:c.*1304C=	ENSP00000503954.1:n.*1304C=
ENST00000399408.6:c.3064C=	ENSP00000382340.3:p.Leu1022=
ENST00000399410.7:c.4012C=	ENSP00000382342.3:p.Leu1338=
ENST00000572882.2:c.3737C=
NM_004996.3:c.4012C=	NP_004987.2:p.Leu1338=
XM_011522497.1:c.3988C=	XP_011520799.1:p.Leu1330=
XM_011522498.1:c.3919C=	XP_011520800.1:p.Leu1307=
XM_011522498.2:c.3919C=	XP_011520800.1:p.Leu1307=
XM_017023237.1:c.4066C=	XP_016878726.1:p.Leu1356=
XM_017023238.1:c.3940C=	XP_016878727.1:p.Leu1314=
XM_017023239.1:c.3928C=	XP_016878728.1:p.Leu1310=
XM_017023240.1:c.3889C=	XP_016878729.1:p.Leu1297=
XM_017023241.1:c.3802C=	XP_016878730.1:p.Leu1268=
XM_017023242.1:c.3721C=	XP_016878731.1:p.Leu1241=
NM_004996.4:c.4012C= MANE Select	NP_004987.2:p.Leu1338=