Canonical Allele Identifier: CA394882235

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16110471A>T (hg19) ; chr16:g.16016614A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016614A>T , CM000678.2:g.16016614A>T	GRCh38
NC_000016.9:g.16110471A>T , CM000678.1:g.16110471A>T	GRCh37
NC_000016.8:g.16017972A>T	NCBI36
NG_028268.1:g.72038A>T
NG_028268.2:g.72038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.608A>T	ENSP00000382340.4:p.His203Leu
ENST00000399410.8:c.608A>T MANE Select	ENSP00000382342.3:p.His203Leu
ENST00000572882.3:c.608A>T	ENSP00000461615.2:p.His203Leu
ENST00000574224.2:n.683A>T
ENST00000677164.1:c.489+1986A>T	ENSP00000502873.1:n.489+1986A>T
ENST00000678422.1:c.608A>T	ENSP00000503954.1:p.His203Leu
ENST00000679043.1:n.560A>T
ENST00000399408.6:c.-371A>T	ENSP00000382340.3:n.-371A>T
ENST00000399410.7:c.608A>T	ENSP00000382342.3:p.His203Leu
ENST00000572882.2:c.303A>T
ENST00000574224.1:n.208A>T
NM_004996.3:c.608A>T	NP_004987.2:p.His203Leu
XM_011522497.1:c.584A>T	XP_011520799.1:p.His195Leu
XM_011522498.1:c.662A>T	XP_011520800.1:p.His221Leu
XM_011522498.2:c.662A>T	XP_011520800.1:p.His221Leu
XM_017023237.1:c.662A>T	XP_016878726.1:p.His221Leu
XM_017023238.1:c.543+1986A>T	XP_016878727.1:n.543+1986A>T
XM_017023239.1:c.524A>T	XP_016878728.1:p.His175Leu
XM_017023240.1:c.662A>T	XP_016878729.1:p.His221Leu
XM_017023241.1:c.405+6713A>T	XP_016878730.1:n.405+6713A>T
XM_017023242.1:c.662A>T	XP_016878731.1:p.His221Leu
XM_017023243.2:c.662A>T	XP_016878732.1:p.His221Leu
NM_004996.4:c.608A>T MANE Select	NP_004987.2:p.His203Leu