Canonical Allele Identifier: CA394882018

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16110375G>T (hg19) ; chr16:g.16016518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016518G>T , CM000678.2:g.16016518G>T	GRCh38
NC_000016.9:g.16110375G>T , CM000678.1:g.16110375G>T	GRCh37
NC_000016.8:g.16017876G>T	NCBI36
NG_028268.1:g.71942G>T
NG_028268.2:g.71942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.512G>T	ENSP00000382340.4:p.Arg171Leu
ENST00000399410.8:c.512G>T MANE Select	ENSP00000382342.3:p.Arg171Leu
ENST00000572882.3:c.512G>T	ENSP00000461615.2:p.Arg171Leu
ENST00000574224.2:n.587G>T
ENST00000677164.1:c.489+1890G>T	ENSP00000502873.1:n.489+1890G>T
ENST00000678422.1:c.512G>T	ENSP00000503954.1:p.Arg171Leu
ENST00000679043.1:n.464G>T
ENST00000399408.6:c.-467G>T	ENSP00000382340.3:n.-467G>T
ENST00000399410.7:c.512G>T	ENSP00000382342.3:p.Arg171Leu
ENST00000572882.2:c.207G>T
ENST00000574224.1:n.112G>T
NM_004996.3:c.512G>T	NP_004987.2:p.Arg171Leu
XM_011522497.1:c.488G>T	XP_011520799.1:p.Arg163Leu
XM_011522498.1:c.566G>T	XP_011520800.1:p.Arg189Leu
XM_011522498.2:c.566G>T	XP_011520800.1:p.Arg189Leu
XM_017023237.1:c.566G>T	XP_016878726.1:p.Arg189Leu
XM_017023238.1:c.543+1890G>T	XP_016878727.1:n.543+1890G>T
XM_017023239.1:c.428G>T	XP_016878728.1:p.Arg143Leu
XM_017023240.1:c.566G>T	XP_016878729.1:p.Arg189Leu
XM_017023241.1:c.405+6617G>T	XP_016878730.1:n.405+6617G>T
XM_017023242.1:c.566G>T	XP_016878731.1:p.Arg189Leu
XM_017023243.2:c.566G>T	XP_016878732.1:p.Arg189Leu
NM_004996.4:c.512G>T MANE Select	NP_004987.2:p.Arg171Leu