Canonical Allele Identifier: CA394881992

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16110362G>T (hg19) ; chr16:g.16016505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016505G>T , CM000678.2:g.16016505G>T	GRCh38
NC_000016.9:g.16110362G>T , CM000678.1:g.16110362G>T	GRCh37
NC_000016.8:g.16017863G>T	NCBI36
NG_028268.1:g.71929G>T
NG_028268.2:g.71929G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.499G>T	ENSP00000382340.4:p.Val167Leu
ENST00000399410.8:c.499G>T MANE Select	ENSP00000382342.3:p.Val167Leu
ENST00000572882.3:c.499G>T	ENSP00000461615.2:p.Val167Leu
ENST00000574224.2:n.574G>T
ENST00000677164.1:c.489+1877G>T	ENSP00000502873.1:n.489+1877G>T
ENST00000678422.1:c.499G>T	ENSP00000503954.1:p.Val167Leu
ENST00000679043.1:n.451G>T
ENST00000399408.6:c.-480G>T	ENSP00000382340.3:n.-480G>T
ENST00000399410.7:c.499G>T	ENSP00000382342.3:p.Val167Leu
ENST00000572882.2:c.194G>T
ENST00000574224.1:n.99G>T
NM_004996.3:c.499G>T	NP_004987.2:p.Val167Leu
XM_011522497.1:c.475G>T	XP_011520799.1:p.Val159Leu
XM_011522498.1:c.553G>T	XP_011520800.1:p.Val185Leu
XM_011522498.2:c.553G>T	XP_011520800.1:p.Val185Leu
XM_017023237.1:c.553G>T	XP_016878726.1:p.Val185Leu
XM_017023238.1:c.543+1877G>T	XP_016878727.1:n.543+1877G>T
XM_017023239.1:c.415G>T	XP_016878728.1:p.Val139Leu
XM_017023240.1:c.553G>T	XP_016878729.1:p.Val185Leu
XM_017023241.1:c.405+6604G>T	XP_016878730.1:n.405+6604G>T
XM_017023242.1:c.553G>T	XP_016878731.1:p.Val185Leu
XM_017023243.2:c.553G>T	XP_016878732.1:p.Val185Leu
NM_004996.4:c.499G>T MANE Select	NP_004987.2:p.Val167Leu