Canonical Allele Identifier: CA394882230

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16110470C>G (hg19) ; chr16:g.16016613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016613C>G , CM000678.2:g.16016613C>G	GRCh38
NC_000016.9:g.16110470C>G , CM000678.1:g.16110470C>G	GRCh37
NC_000016.8:g.16017971C>G	NCBI36
NG_028268.1:g.72037C>G
NG_028268.2:g.72037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.607C>G	ENSP00000382340.4:p.His203Asp
ENST00000399410.8:c.607C>G MANE Select	ENSP00000382342.3:p.His203Asp
ENST00000572882.3:c.607C>G	ENSP00000461615.2:p.His203Asp
ENST00000574224.2:n.682C>G
ENST00000677164.1:c.489+1985C>G	ENSP00000502873.1:n.489+1985C>G
ENST00000678422.1:c.607C>G	ENSP00000503954.1:p.His203Asp
ENST00000679043.1:n.559C>G
ENST00000399408.6:c.-372C>G	ENSP00000382340.3:n.-372C>G
ENST00000399410.7:c.607C>G	ENSP00000382342.3:p.His203Asp
ENST00000572882.2:c.302C>G
ENST00000574224.1:n.207C>G
NM_004996.3:c.607C>G	NP_004987.2:p.His203Asp
XM_011522497.1:c.583C>G	XP_011520799.1:p.His195Asp
XM_011522498.1:c.661C>G	XP_011520800.1:p.His221Asp
XM_011522498.2:c.661C>G	XP_011520800.1:p.His221Asp
XM_017023237.1:c.661C>G	XP_016878726.1:p.His221Asp
XM_017023238.1:c.543+1985C>G	XP_016878727.1:n.543+1985C>G
XM_017023239.1:c.523C>G	XP_016878728.1:p.His175Asp
XM_017023240.1:c.661C>G	XP_016878729.1:p.His221Asp
XM_017023241.1:c.405+6712C>G	XP_016878730.1:n.405+6712C>G
XM_017023242.1:c.661C>G	XP_016878731.1:p.His221Asp
XM_017023243.2:c.661C>G	XP_016878732.1:p.His221Asp
NM_004996.4:c.607C>G MANE Select	NP_004987.2:p.His203Asp