Canonical Allele Identifier: CA394878694

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228252C>A (hg19) ; chr16:g.16134395C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4042C>A	ENSP00000382340.4:p.Leu1348Met
ENST00000399410.8:c.4012C>A MANE Select	ENSP00000382342.3:p.Leu1338Met
ENST00000572882.3:c.3835C>A	ENSP00000461615.2:p.Leu1279Met
ENST00000676806.1:n.738C>A
ENST00000677164.1:c.3541C>A	ENSP00000502873.1:p.Leu1181Met
ENST00000678422.1:c.*1304C>A	ENSP00000503954.1:n.*1304C>A
ENST00000399408.6:c.3064C>A	ENSP00000382340.3:p.Leu1022Met
ENST00000399410.7:c.4012C>A	ENSP00000382342.3:p.Leu1338Met
ENST00000572882.2:c.3737C>A
NM_004996.3:c.4012C>A	NP_004987.2:p.Leu1338Met
XM_011522497.1:c.3988C>A	XP_011520799.1:p.Leu1330Met
XM_011522498.1:c.3919C>A	XP_011520800.1:p.Leu1307Met
XM_011522498.2:c.3919C>A	XP_011520800.1:p.Leu1307Met
XM_017023237.1:c.4066C>A	XP_016878726.1:p.Leu1356Met
XM_017023238.1:c.3940C>A	XP_016878727.1:p.Leu1314Met
XM_017023239.1:c.3928C>A	XP_016878728.1:p.Leu1310Met
XM_017023240.1:c.3889C>A	XP_016878729.1:p.Leu1297Met
XM_017023241.1:c.3802C>A	XP_016878730.1:p.Leu1268Met
XM_017023242.1:c.3721C>A	XP_016878731.1:p.Leu1241Met
NM_004996.4:c.4012C>A MANE Select	NP_004987.2:p.Leu1338Met