Canonical Allele Identifier: CA394879001

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228253T>C (hg19) ; chr16:g.16134396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134396T>C , CM000678.2:g.16134396T>C	GRCh38
NC_000016.9:g.16228253T>C , CM000678.1:g.16228253T>C	GRCh37
NC_000016.8:g.16135754T>C	NCBI36
NG_028268.1:g.189820T>C
NG_028268.2:g.189820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4043T>C	ENSP00000382340.4:p.Leu1348Pro
ENST00000399410.8:c.4013T>C MANE Select	ENSP00000382342.3:p.Leu1338Pro
ENST00000572882.3:c.3836T>C	ENSP00000461615.2:p.Leu1279Pro
ENST00000676806.1:n.739T>C
ENST00000677164.1:c.3542T>C	ENSP00000502873.1:p.Leu1181Pro
ENST00000678422.1:c.*1305T>C	ENSP00000503954.1:n.*1305T>C
ENST00000399408.6:c.3065T>C	ENSP00000382340.3:p.Leu1022Pro
ENST00000399410.7:c.4013T>C	ENSP00000382342.3:p.Leu1338Pro
ENST00000572882.2:c.3738T>C
NM_004996.3:c.4013T>C	NP_004987.2:p.Leu1338Pro
XM_011522497.1:c.3989T>C	XP_011520799.1:p.Leu1330Pro
XM_011522498.1:c.3920T>C	XP_011520800.1:p.Leu1307Pro
XM_011522498.2:c.3920T>C	XP_011520800.1:p.Leu1307Pro
XM_017023237.1:c.4067T>C	XP_016878726.1:p.Leu1356Pro
XM_017023238.1:c.3941T>C	XP_016878727.1:p.Leu1314Pro
XM_017023239.1:c.3929T>C	XP_016878728.1:p.Leu1310Pro
XM_017023240.1:c.3890T>C	XP_016878729.1:p.Leu1297Pro
XM_017023241.1:c.3803T>C	XP_016878730.1:p.Leu1268Pro
XM_017023242.1:c.3722T>C	XP_016878731.1:p.Leu1241Pro
NM_004996.4:c.4013T>C MANE Select	NP_004987.2:p.Leu1338Pro