Canonical Allele Identifier: CA394882026

Gene: ABCC1

Linked Data

• gnomAD v4: 16-16016523-A-G
• MyVariant Identifiers: chr16:g.16110380A>G (hg19) ; chr16:g.16016523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016523A>G , CM000678.2:g.16016523A>G	GRCh38
NC_000016.9:g.16110380A>G , CM000678.1:g.16110380A>G	GRCh37
NC_000016.8:g.16017881A>G	NCBI36
NG_028268.1:g.71947A>G
NG_028268.2:g.71947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.517A>G	ENSP00000382340.4:p.Ile173Val
ENST00000399410.8:c.517A>G MANE Select	ENSP00000382342.3:p.Ile173Val
ENST00000572882.3:c.517A>G	ENSP00000461615.2:p.Ile173Val
ENST00000574224.2:n.592A>G
ENST00000677164.1:c.489+1895A>G	ENSP00000502873.1:n.489+1895A>G
ENST00000678422.1:c.517A>G	ENSP00000503954.1:p.Ile173Val
ENST00000679043.1:n.469A>G
ENST00000399408.6:c.-462A>G	ENSP00000382340.3:n.-462A>G
ENST00000399410.7:c.517A>G	ENSP00000382342.3:p.Ile173Val
ENST00000572882.2:c.212A>G
ENST00000574224.1:n.117A>G
NM_004996.3:c.517A>G	NP_004987.2:p.Ile173Val
XM_011522497.1:c.493A>G	XP_011520799.1:p.Ile165Val
XM_011522498.1:c.571A>G	XP_011520800.1:p.Ile191Val
XM_011522498.2:c.571A>G	XP_011520800.1:p.Ile191Val
XM_017023237.1:c.571A>G	XP_016878726.1:p.Ile191Val
XM_017023238.1:c.543+1895A>G	XP_016878727.1:n.543+1895A>G
XM_017023239.1:c.433A>G	XP_016878728.1:p.Ile145Val
XM_017023240.1:c.571A>G	XP_016878729.1:p.Ile191Val
XM_017023241.1:c.405+6622A>G	XP_016878730.1:n.405+6622A>G
XM_017023242.1:c.571A>G	XP_016878731.1:p.Ile191Val
XM_017023243.2:c.571A>G	XP_016878732.1:p.Ile191Val
NM_004996.4:c.517A>G MANE Select	NP_004987.2:p.Ile173Val