Canonical Allele Identifier: CA7520386

Gene: EPB42

Linked Data

• ClinVar Variation Id: 316016
• ClinVar RCV Id: RCV000356581 ; RCV003165851 ; RCV003556326
• dbSNP Id: rs141596199
• ExAC: 15:43499550 T / G
• gnomAD v2: 15-43499550-T-G
• gnomAD v3: 15-43207352-T-G
• gnomAD v4: 15-43207352-T-G
• MyVariant Identifiers: chr15:g.43499550T>G (hg19) ; chr15:g.43207352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43207352T>G , CM000677.2:g.43207352T>G	GRCh38
NC_000015.9:g.43499550T>G , CM000677.1:g.43499550T>G	GRCh37
NC_000015.8:g.41286842T>G	NCBI36
NG_011505.1:g.18774A>C
NG_011505.2:g.23505A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1165A>C MANE Select	ENSP00000396616.2:p.Ile389Leu
ENST00000567019.2:n.671A>C
ENST00000648595.1:c.1255A>C	ENSP00000497777.1:p.Ile419Leu
ENST00000300215.7:c.1255A>C	ENSP00000300215.3:p.Ile419Leu
ENST00000441366.6:c.1165A>C	ENSP00000396616.2:p.Ile389Leu
ENST00000540029.5:c.931A>C	ENSP00000444699.1:p.Ile311Leu
ENST00000567019.1:n.680A>C
ENST00000568508.5:c.1024A>C	ENSP00000457140.1:p.Ile342Leu
ENST00000622454.4:c.972-23A>C	ENSP00000481226.1:n.972-23A>C
NM_000119.2:c.1255A>C	NP_000110.2:p.Ile419Leu
NM_001114134.1:c.1165A>C	NP_001107606.1:p.Ile389Leu
XM_005254225.1:c.1060A>C	XP_005254282.1:p.Ile354Leu
XM_011521349.1:c.1255A>C	XP_011519651.1:p.Ile419Leu
XM_011521350.1:c.1255A>C	XP_011519652.1:p.Ile419Leu
XM_011521351.1:c.1255A>C	XP_011519653.1:p.Ile419Leu
XM_011521352.1:c.1219A>C	XP_011519654.1:p.Ile407Leu
XM_011521353.1:c.1150A>C	XP_011519655.1:p.Ile384Leu
XM_011521354.1:c.700A>C	XP_011519656.1:p.Ile234Leu
NM_000119.3:c.1255A>C	NP_000110.2:p.Ile419Leu
XM_011521349.2:c.1255A>C	XP_011519651.1:p.Ile419Leu
XM_011521350.2:c.1255A>C	XP_011519652.1:p.Ile419Leu
XM_011521351.2:c.1255A>C	XP_011519653.1:p.Ile419Leu
XM_011521352.2:c.1219A>C	XP_011519654.1:p.Ile407Leu
XM_011521353.2:c.1150A>C	XP_011519655.1:p.Ile384Leu
XM_011521354.2:c.700A>C	XP_011519656.1:p.Ile234Leu
NM_001114134.2:c.1165A>C MANE Select	NP_001107606.1:p.Ile389Leu