Canonical Allele Identifier: CA394879006

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228255G>C (hg19) ; chr16:g.16134398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134398G>C , CM000678.2:g.16134398G>C	GRCh38
NC_000016.9:g.16228255G>C , CM000678.1:g.16228255G>C	GRCh37
NC_000016.8:g.16135756G>C	NCBI36
NG_028268.1:g.189822G>C
NG_028268.2:g.189822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4045G>C	ENSP00000382340.4:p.Gly1349Arg
ENST00000399410.8:c.4015G>C MANE Select	ENSP00000382342.3:p.Gly1339Arg
ENST00000572882.3:c.3838G>C	ENSP00000461615.2:p.Gly1280Arg
ENST00000676806.1:n.741G>C
ENST00000677164.1:c.3544G>C	ENSP00000502873.1:p.Gly1182Arg
ENST00000678422.1:c.*1307G>C	ENSP00000503954.1:n.*1307G>C
ENST00000399408.6:c.3067G>C	ENSP00000382340.3:p.Gly1023Arg
ENST00000399410.7:c.4015G>C	ENSP00000382342.3:p.Gly1339Arg
ENST00000572882.2:c.3740G>C
NM_004996.3:c.4015G>C	NP_004987.2:p.Gly1339Arg
XM_011522497.1:c.3991G>C	XP_011520799.1:p.Gly1331Arg
XM_011522498.1:c.3922G>C	XP_011520800.1:p.Gly1308Arg
XM_011522498.2:c.3922G>C	XP_011520800.1:p.Gly1308Arg
XM_017023237.1:c.4069G>C	XP_016878726.1:p.Gly1357Arg
XM_017023238.1:c.3943G>C	XP_016878727.1:p.Gly1315Arg
XM_017023239.1:c.3931G>C	XP_016878728.1:p.Gly1311Arg
XM_017023240.1:c.3892G>C	XP_016878729.1:p.Gly1298Arg
XM_017023241.1:c.3805G>C	XP_016878730.1:p.Gly1269Arg
XM_017023242.1:c.3724G>C	XP_016878731.1:p.Gly1242Arg
NM_004996.4:c.4015G>C MANE Select	NP_004987.2:p.Gly1339Arg