Canonical Allele Identifier: CA289226

Gene: ABCB7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.75065162G>A , CM000685.2:g.75065162G>A	GRCh38
NC_000023.10:g.74284997G>A , CM000685.1:g.74284997G>A	GRCh37
NC_000023.9:g.74201722G>A	NCBI36
NG_007980.1:g.96136C>T
NG_007980.3:g.96122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253577.9:c.1742C>T	ENSP00000253577.3:p.Ala581Val
ENST00000373394.8:c.1739C>T MANE Select	ENSP00000362492.3:p.Ala580Val
ENST00000620875.5:c.1622C>T	ENSP00000479985.1:p.Ala541Val
ENST00000644766.1:c.1742C>T	ENSP00000493713.1:p.Ala581Val
ENST00000645829.3:c.1754C>T	ENSP00000496526.2:p.Ala585Val
ENST00000663420.1:n.1659C>T
ENST00000666534.1:n.1629C>T
ENST00000669388.1:n.1600C>T
ENST00000669573.1:c.1562C>T	ENSP00000499543.1:p.Ala521Val
ENST00000253577.7:c.1742C>T	ENSP00000253577.3:p.Ala581Val
ENST00000339447.8:c.1619C>T	ENSP00000343849.4:p.Ala540Val
ENST00000373394.7:c.1739C>T	ENSP00000362492.3:p.Ala580Val
ENST00000529949.5:c.1661C>T	ENSP00000436586.1:p.Ala554Val
ENST00000620875.4:c.1622C>T	ENSP00000479985.1:p.Ala541Val
NM_001271696.1:c.1739C>T	NP_001258625.1:p.Ala580Val
NM_001271697.1:c.1619C>T	NP_001258626.1:p.Ala540Val
NM_001271698.1:c.1661C>T	NP_001258627.1:p.Ala554Val
NM_001271699.1:c.1622C>T	NP_001258628.1:p.Ala541Val
NM_004299.4:c.1742C>T	NP_004290.2:p.Ala581Val
NM_001271696.2:c.1739C>T	NP_001258625.1:p.Ala580Val
NM_001271697.2:c.1619C>T	NP_001258626.1:p.Ala540Val
NM_001271698.2:c.1661C>T	NP_001258627.1:p.Ala554Val
NM_001271699.2:c.1622C>T	NP_001258628.1:p.Ala541Val
NM_004299.6:c.1742C>T	NP_004290.2:p.Ala581Val
NM_001271696.3:c.1739C>T MANE Select	NP_001258625.1:p.Ala580Val
NM_001271697.3:c.1619C>T	NP_001258626.1:p.Ala540Val
NM_001271698.3:c.1661C>T	NP_001258627.1:p.Ala554Val
NM_001271699.3:c.1622C>T	NP_001258628.1:p.Ala541Val