Canonical Allele Identifier: CA394879021

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228260A>C (hg19) ; chr16:g.16134403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134403A>C , CM000678.2:g.16134403A>C	GRCh38
NC_000016.9:g.16228260A>C , CM000678.1:g.16228260A>C	GRCh37
NC_000016.8:g.16135761A>C	NCBI36
NG_028268.1:g.189827A>C
NG_028268.2:g.189827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4050A>C	ENSP00000382340.4:p.Leu1350Phe
ENST00000399410.8:c.4020A>C MANE Select	ENSP00000382342.3:p.Leu1340Phe
ENST00000572882.3:c.3843A>C	ENSP00000461615.2:p.Leu1281Phe
ENST00000676806.1:n.746A>C
ENST00000677164.1:c.3549A>C	ENSP00000502873.1:p.Leu1183Phe
ENST00000678422.1:c.*1312A>C	ENSP00000503954.1:n.*1312A>C
ENST00000399408.6:c.3072A>C	ENSP00000382340.3:p.Leu1024Phe
ENST00000399410.7:c.4020A>C	ENSP00000382342.3:p.Leu1340Phe
ENST00000572882.2:c.3745A>C
NM_004996.3:c.4020A>C	NP_004987.2:p.Leu1340Phe
XM_011522497.1:c.3996A>C	XP_011520799.1:p.Leu1332Phe
XM_011522498.1:c.3927A>C	XP_011520800.1:p.Leu1309Phe
XM_011522498.2:c.3927A>C	XP_011520800.1:p.Leu1309Phe
XM_017023237.1:c.4074A>C	XP_016878726.1:p.Leu1358Phe
XM_017023238.1:c.3948A>C	XP_016878727.1:p.Leu1316Phe
XM_017023239.1:c.3936A>C	XP_016878728.1:p.Leu1312Phe
XM_017023240.1:c.3897A>C	XP_016878729.1:p.Leu1299Phe
XM_017023241.1:c.3810A>C	XP_016878730.1:p.Leu1270Phe
XM_017023242.1:c.3729A>C	XP_016878731.1:p.Leu1243Phe
NM_004996.4:c.4020A>C MANE Select	NP_004987.2:p.Leu1340Phe