Canonical Allele Identifier: CA7520137

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43197334C>T , CM000677.2:g.43197334C>T	GRCh38
NC_000015.9:g.43489532C>T , CM000677.1:g.43489532C>T	GRCh37
NC_000015.8:g.41276824C>T	NCBI36
NG_011505.1:g.28792G>A
NG_011505.2:g.33523G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.2044G>A MANE Select	NP_001107606.1:p.Val682Ile
ENST00000441366.7:c.2044G>A MANE Select	ENSP00000396616.2:p.Val682Ile
NM_000119.2:c.2134G>A	NP_000110.2:p.Val712Ile
NM_000119.3:c.2134G>A	NP_000110.2:p.Val712Ile
NM_001114134.1:c.2044G>A	NP_001107606.1:p.Val682Ile
ENST00000300215.7:c.2134G>A	ENSP00000300215.3:p.Val712Ile
ENST00000441366.6:c.2044G>A	ENSP00000396616.2:p.Val682Ile
ENST00000540029.5:c.1810G>A	ENSP00000444699.1:p.Val604Ile
ENST00000563128.5:n.447+4510G>A
ENST00000567019.1:n.1559G>A
ENST00000567019.2:n.1550G>A
ENST00000568508.5:c.1742G>A	ENSP00000457140.1:n.1742G>A
ENST00000622454.4:c.1828G>A	ENSP00000481226.1:p.Val610Ile
ENST00000648595.1:c.2134G>A	ENSP00000497777.1:p.Val712Ile
XM_005254225.1:c.1939G>A	XP_005254282.1:p.Val647Ile
XM_011521349.1:c.2134G>A	XP_011519651.1:p.Val712Ile
XM_011521349.2:c.2134G>A	XP_011519651.1:p.Val712Ile
XM_011521350.1:c.2134G>A	XP_011519652.1:p.Val712Ile
XM_011521350.2:c.2134G>A	XP_011519652.1:p.Val712Ile
XM_011521351.1:c.2134G>A	XP_011519653.1:p.Val712Ile
XM_011521351.2:c.2134G>A	XP_011519653.1:p.Val712Ile
XM_011521352.1:c.2098G>A	XP_011519654.1:p.Val700Ile
XM_011521352.2:c.2098G>A	XP_011519654.1:p.Val700Ile
XM_011521353.1:c.2029G>A	XP_011519655.1:p.Val677Ile
XM_011521353.2:c.2029G>A	XP_011519655.1:p.Val677Ile
XM_011521354.1:c.1579G>A	XP_011519656.1:p.Val527Ile
XM_011521354.2:c.1579G>A	XP_011519656.1:p.Val527Ile