Canonical Allele Identifier: CA493797758

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228254G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134397G>C , CM000678.2:g.16134397G>C	GRCh38
NC_000016.9:g.16228254G>C , CM000678.1:g.16228254G>C	GRCh37
NC_000016.8:g.16135755G>C	NCBI36
NG_028268.1:g.189821G>C
NG_028268.2:g.189821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4044G>C	ENSP00000382340.4:p.Leu1348=
ENST00000399410.8:c.4014G>C MANE Select	ENSP00000382342.3:p.Leu1338=
ENST00000572882.3:c.3837G>C	ENSP00000461615.2:p.Leu1279=
ENST00000676806.1:n.740G>C
ENST00000677164.1:c.3543G>C	ENSP00000502873.1:p.Leu1181=
ENST00000678422.1:c.*1306G>C	ENSP00000503954.1:n.*1306G>C
ENST00000399408.6:c.3066G>C	ENSP00000382340.3:p.Leu1022=
ENST00000399410.7:c.4014G>C	ENSP00000382342.3:p.Leu1338=
ENST00000572882.2:c.3739G>C
NM_004996.3:c.4014G>C	NP_004987.2:p.Leu1338=
XM_011522497.1:c.3990G>C	XP_011520799.1:p.Leu1330=
XM_011522498.1:c.3921G>C	XP_011520800.1:p.Leu1307=
XM_011522498.2:c.3921G>C	XP_011520800.1:p.Leu1307=
XM_017023237.1:c.4068G>C	XP_016878726.1:p.Leu1356=
XM_017023238.1:c.3942G>C	XP_016878727.1:p.Leu1314=
XM_017023239.1:c.3930G>C	XP_016878728.1:p.Leu1310=
XM_017023240.1:c.3891G>C	XP_016878729.1:p.Leu1297=
XM_017023241.1:c.3804G>C	XP_016878730.1:p.Leu1268=
XM_017023242.1:c.3723G>C	XP_016878731.1:p.Leu1241=
NM_004996.4:c.4014G>C MANE Select	NP_004987.2:p.Leu1338=