Canonical Allele Identifier: CA7520510

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43209274C>G , CM000677.2:g.43209274C>G	GRCh38
NC_000015.9:g.43501472C>G , CM000677.1:g.43501472C>G	GRCh37
NC_000015.8:g.41288764C>G	NCBI36
NG_011505.1:g.16852G>C
NG_011505.2:g.21583G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.832G>C MANE Select	NP_001107606.1:p.Val278Leu
ENST00000441366.7:c.832G>C MANE Select	ENSP00000396616.2:p.Val278Leu
NM_000119.2:c.922G>C	NP_000110.2:p.Val308Leu
NM_000119.3:c.922G>C	NP_000110.2:p.Val308Leu
NM_001114134.1:c.832G>C	NP_001107606.1:p.Val278Leu
ENST00000300215.7:c.922G>C	ENSP00000300215.3:p.Val308Leu
ENST00000441366.6:c.832G>C	ENSP00000396616.2:p.Val278Leu
ENST00000540029.5:c.598G>C	ENSP00000444699.1:p.Val200Leu
ENST00000567019.1:n.347G>C
ENST00000567019.2:n.338G>C
ENST00000568508.5:c.691G>C	ENSP00000457140.1:p.Val231Leu
ENST00000569204.1:c.391G>C	ENSP00000455489.1:p.Val131Leu
ENST00000622454.4:c.832G>C	ENSP00000481226.1:p.Val278Leu
ENST00000648595.1:c.922G>C	ENSP00000497777.1:p.Val308Leu
XM_005254225.1:c.727G>C	XP_005254282.1:p.Val243Leu
XM_011521349.1:c.922G>C	XP_011519651.1:p.Val308Leu
XM_011521349.2:c.922G>C	XP_011519651.1:p.Val308Leu
XM_011521350.1:c.922G>C	XP_011519652.1:p.Val308Leu
XM_011521350.2:c.922G>C	XP_011519652.1:p.Val308Leu
XM_011521351.1:c.922G>C	XP_011519653.1:p.Val308Leu
XM_011521351.2:c.922G>C	XP_011519653.1:p.Val308Leu
XM_011521352.1:c.886G>C	XP_011519654.1:p.Val296Leu
XM_011521352.2:c.886G>C	XP_011519654.1:p.Val296Leu
XM_011521353.1:c.817G>C	XP_011519655.1:p.Val273Leu
XM_011521353.2:c.817G>C	XP_011519655.1:p.Val273Leu
XM_011521354.1:c.367G>C	XP_011519656.1:p.Val123Leu
XM_011521354.2:c.367G>C	XP_011519656.1:p.Val123Leu