Canonical Allele Identifier: CA394882015

Gene: ABCC1

Linked Data

• gnomAD v4: 16-16016517-C-A
• MyVariant Identifiers: chr16:g.16110374C>A (hg19) ; chr16:g.16016517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016517C>A , CM000678.2:g.16016517C>A	GRCh38
NC_000016.9:g.16110374C>A , CM000678.1:g.16110374C>A	GRCh37
NC_000016.8:g.16017875C>A	NCBI36
NG_028268.1:g.71941C>A
NG_028268.2:g.71941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.511C>A	ENSP00000382340.4:p.Arg171Ser
ENST00000399410.8:c.511C>A MANE Select	ENSP00000382342.3:p.Arg171Ser
ENST00000572882.3:c.511C>A	ENSP00000461615.2:p.Arg171Ser
ENST00000574224.2:n.586C>A
ENST00000677164.1:c.489+1889C>A	ENSP00000502873.1:n.489+1889C>A
ENST00000678422.1:c.511C>A	ENSP00000503954.1:p.Arg171Ser
ENST00000679043.1:n.463C>A
ENST00000399408.6:c.-468C>A	ENSP00000382340.3:n.-468C>A
ENST00000399410.7:c.511C>A	ENSP00000382342.3:p.Arg171Ser
ENST00000572882.2:c.206C>A
ENST00000574224.1:n.111C>A
NM_004996.3:c.511C>A	NP_004987.2:p.Arg171Ser
XM_011522497.1:c.487C>A	XP_011520799.1:p.Arg163Ser
XM_011522498.1:c.565C>A	XP_011520800.1:p.Arg189Ser
XM_011522498.2:c.565C>A	XP_011520800.1:p.Arg189Ser
XM_017023237.1:c.565C>A	XP_016878726.1:p.Arg189Ser
XM_017023238.1:c.543+1889C>A	XP_016878727.1:n.543+1889C>A
XM_017023239.1:c.427C>A	XP_016878728.1:p.Arg143Ser
XM_017023240.1:c.565C>A	XP_016878729.1:p.Arg189Ser
XM_017023241.1:c.405+6616C>A	XP_016878730.1:n.405+6616C>A
XM_017023242.1:c.565C>A	XP_016878731.1:p.Arg189Ser
XM_017023243.2:c.565C>A	XP_016878732.1:p.Arg189Ser
NM_004996.4:c.511C>A MANE Select	NP_004987.2:p.Arg171Ser