Canonical Allele Identifier: CA394882044

Gene: ABCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016531C>G , CM000678.2:g.16016531C>G	GRCh38
NC_000016.9:g.16110388C>G , CM000678.1:g.16110388C>G	GRCh37
NC_000016.8:g.16017889C>G	NCBI36
NG_028268.1:g.71955C>G
NG_028268.2:g.71955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.525C>G	ENSP00000382340.4:p.Phe175Leu
ENST00000399410.8:c.525C>G MANE Select	ENSP00000382342.3:p.Phe175Leu
ENST00000572882.3:c.525C>G	ENSP00000461615.2:p.Phe175Leu
ENST00000574224.2:n.600C>G
ENST00000677164.1:c.489+1903C>G	ENSP00000502873.1:n.489+1903C>G
ENST00000678422.1:c.525C>G	ENSP00000503954.1:p.Phe175Leu
ENST00000679043.1:n.477C>G
ENST00000399408.6:c.-454C>G	ENSP00000382340.3:n.-454C>G
ENST00000399410.7:c.525C>G	ENSP00000382342.3:p.Phe175Leu
ENST00000572882.2:c.220C>G
ENST00000574224.1:n.125C>G
NM_004996.3:c.525C>G	NP_004987.2:p.Phe175Leu
XM_011522497.1:c.501C>G	XP_011520799.1:p.Phe167Leu
XM_011522498.1:c.579C>G	XP_011520800.1:p.Phe193Leu
XM_011522498.2:c.579C>G	XP_011520800.1:p.Phe193Leu
XM_017023237.1:c.579C>G	XP_016878726.1:p.Phe193Leu
XM_017023238.1:c.543+1903C>G	XP_016878727.1:n.543+1903C>G
XM_017023239.1:c.441C>G	XP_016878728.1:p.Phe147Leu
XM_017023240.1:c.579C>G	XP_016878729.1:p.Phe193Leu
XM_017023241.1:c.405+6630C>G	XP_016878730.1:n.405+6630C>G
XM_017023242.1:c.579C>G	XP_016878731.1:p.Phe193Leu
XM_017023243.2:c.579C>G	XP_016878732.1:p.Phe193Leu
NM_004996.4:c.525C>G MANE Select	NP_004987.2:p.Phe175Leu