Canonical Allele Identifier: CA394882019

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16110377G>C (hg19) ; chr16:g.16016520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016520G>C , CM000678.2:g.16016520G>C	GRCh38
NC_000016.9:g.16110377G>C , CM000678.1:g.16110377G>C	GRCh37
NC_000016.8:g.16017878G>C	NCBI36
NG_028268.1:g.71944G>C
NG_028268.2:g.71944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.514G>C	ENSP00000382340.4:p.Asp172His
ENST00000399410.8:c.514G>C MANE Select	ENSP00000382342.3:p.Asp172His
ENST00000572882.3:c.514G>C	ENSP00000461615.2:p.Asp172His
ENST00000574224.2:n.589G>C
ENST00000677164.1:c.489+1892G>C	ENSP00000502873.1:n.489+1892G>C
ENST00000678422.1:c.514G>C	ENSP00000503954.1:p.Asp172His
ENST00000679043.1:n.466G>C
ENST00000399408.6:c.-465G>C	ENSP00000382340.3:n.-465G>C
ENST00000399410.7:c.514G>C	ENSP00000382342.3:p.Asp172His
ENST00000572882.2:c.209G>C
ENST00000574224.1:n.114G>C
NM_004996.3:c.514G>C	NP_004987.2:p.Asp172His
XM_011522497.1:c.490G>C	XP_011520799.1:p.Asp164His
XM_011522498.1:c.568G>C	XP_011520800.1:p.Asp190His
XM_011522498.2:c.568G>C	XP_011520800.1:p.Asp190His
XM_017023237.1:c.568G>C	XP_016878726.1:p.Asp190His
XM_017023238.1:c.543+1892G>C	XP_016878727.1:n.543+1892G>C
XM_017023239.1:c.430G>C	XP_016878728.1:p.Asp144His
XM_017023240.1:c.568G>C	XP_016878729.1:p.Asp190His
XM_017023241.1:c.405+6619G>C	XP_016878730.1:n.405+6619G>C
XM_017023242.1:c.568G>C	XP_016878731.1:p.Asp190His
XM_017023243.2:c.568G>C	XP_016878732.1:p.Asp190His
NM_004996.4:c.514G>C MANE Select	NP_004987.2:p.Asp172His