Canonical Allele Identifier: CA394885062

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16173240G>T (hg19) ; chr16:g.16079383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16079383G>T , CM000678.2:g.16079383G>T	GRCh38
NC_000016.9:g.16173240G>T , CM000678.1:g.16173240G>T	GRCh37
NC_000016.8:g.16080741G>T	NCBI36
NG_028268.1:g.134807G>T
NG_028268.2:g.134807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.2020G>T	ENSP00000382340.4:p.Val674Leu
ENST00000399410.8:c.2020G>T MANE Select	ENSP00000382342.3:p.Val674Leu
ENST00000572882.3:c.2020G>T	ENSP00000461615.2:p.Val674Leu
ENST00000677164.1:c.1894G>T	ENSP00000502873.1:p.Val632Leu
ENST00000678422.1:c.2020G>T	ENSP00000503954.1:p.Val674Leu
ENST00000399408.6:c.1042G>T	ENSP00000382340.3:p.Val348Leu
ENST00000399410.7:c.2020G>T	ENSP00000382342.3:p.Val674Leu
ENST00000572882.2:c.1715G>T
ENST00000575422.5:n.260G>T
NM_004996.3:c.2020G>T	NP_004987.2:p.Val674Leu
XM_011522497.1:c.1996G>T	XP_011520799.1:p.Val666Leu
XM_011522498.1:c.1927G>T	XP_011520800.1:p.Val643Leu
XM_011522498.2:c.1927G>T	XP_011520800.1:p.Val643Leu
XM_017023237.1:c.2074G>T	XP_016878726.1:p.Val692Leu
XM_017023238.1:c.1948G>T	XP_016878727.1:p.Val650Leu
XM_017023239.1:c.1936G>T	XP_016878728.1:p.Val646Leu
XM_017023240.1:c.2074G>T	XP_016878729.1:p.Val692Leu
XM_017023241.1:c.1810G>T	XP_016878730.1:p.Val604Leu
XM_017023242.1:c.2074G>T	XP_016878731.1:p.Val692Leu
XM_017023243.2:c.2074G>T	XP_016878732.1:p.Val692Leu
NM_004996.4:c.2020G>T MANE Select	NP_004987.2:p.Val674Leu