Canonical Allele Identifier: CA339950571

Gene: ERMAP

Linked Data

• MyVariant Identifiers: chr1:g.43296732C>G (hg19) ; chr1:g.42831061C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831061C>G , CM000663.2:g.42831061C>G	GRCh38
NC_000001.10:g.43296732C>G , CM000663.1:g.43296732C>G	GRCh37
NC_000001.9:g.43069319C>G	NCBI36
NG_008749.1:g.18957C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.379C>G MANE Select	ENSP00000361595.2:p.Leu127Val
ENST00000487556.6:n.452-3977C>G
ENST00000642150.1:n.566C>G
ENST00000647120.1:n.248-3977C>G
ENST00000328249.3:c.109C>G	ENSP00000332439.3:p.Leu37Val
ENST00000372514.7:c.379C>G	ENSP00000361592.3:p.Leu127Val
ENST00000372517.6:c.379C>G	ENSP00000361595.2:p.Leu127Val
ENST00000487556.5:n.247-3977C>G
NM_001017922.1:c.379C>G	NP_001017922.1:p.Leu127Val
NM_018538.3:c.379C>G	NP_061008.2:p.Leu127Val
XM_006710313.2:c.379C>G	XP_006710376.1:p.Leu127Val
XM_011540570.1:c.379C>G	XP_011538872.1:p.Leu127Val
XM_011540571.1:c.379C>G	XP_011538873.1:p.Leu127Val
XM_006710313.4:c.379C>G	XP_006710376.1:p.Leu127Val
XM_011540570.3:c.379C>G	XP_011538872.1:p.Leu127Val
XM_011540571.3:c.379C>G	XP_011538873.1:p.Leu127Val
NM_001017922.2:c.379C>G MANE Select	NP_001017922.1:p.Leu127Val
NM_018538.4:c.379C>G	NP_061008.2:p.Leu127Val