Canonical Allele Identifier: CA7924506

Gene: ABCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16111468G>C , CM000678.2:g.16111468G>C	GRCh38
NC_000016.9:g.16205325G>C , CM000678.1:g.16205325G>C	GRCh37
NC_000016.8:g.16112826G>C	NCBI36
NG_028268.1:g.166892G>C
NG_028268.2:g.166892G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004996.4:c.2965G>C MANE Select	NP_004987.2:p.Ala989Pro
ENST00000399410.8:c.2965G>C MANE Select	ENSP00000382342.3:p.Ala989Pro
NM_004996.3:c.2965G>C	NP_004987.2:p.Ala989Pro
ENST00000399408.6:c.2017G>C	ENSP00000382340.3:p.Ala673Pro
ENST00000399408.7:c.2995G>C	ENSP00000382340.4:p.Ala999Pro
ENST00000399410.7:c.2965G>C	ENSP00000382342.3:p.Ala989Pro
ENST00000572053.5:c.326G>C	ENSP00000459693.1:n.326G>C
ENST00000572882.2:c.2690G>C
ENST00000572882.3:c.2788G>C	ENSP00000461615.2:p.Ala930Pro
ENST00000574761.1:n.442G>C
ENST00000677164.1:c.2494G>C	ENSP00000502873.1:p.Ala832Pro
ENST00000678422.1:c.*257G>C	ENSP00000503954.1:n.*257G>C
XM_011522497.1:c.2941G>C	XP_011520799.1:p.Ala981Pro
XM_011522498.1:c.2872G>C	XP_011520800.1:p.Ala958Pro
XM_011522498.2:c.2872G>C	XP_011520800.1:p.Ala958Pro
XM_017023237.1:c.3019G>C	XP_016878726.1:p.Ala1007Pro
XM_017023238.1:c.2893G>C	XP_016878727.1:p.Ala965Pro
XM_017023239.1:c.2881G>C	XP_016878728.1:p.Ala961Pro
XM_017023240.1:c.2842G>C	XP_016878729.1:p.Ala948Pro
XM_017023241.1:c.2755G>C	XP_016878730.1:p.Ala919Pro
XM_017023242.1:c.2674G>C	XP_016878731.1:p.Ala892Pro