Canonical Allele Identifier: CA339950543

Gene: ERMAP

Linked Data

• gnomAD v4: 1-42831056-G-T
• MyVariant Identifiers: chr1:g.43296727G>T (hg19) ; chr1:g.42831056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831056G>T , CM000663.2:g.42831056G>T	GRCh38
NC_000001.10:g.43296727G>T , CM000663.1:g.43296727G>T	GRCh37
NC_000001.9:g.43069314G>T	NCBI36
NG_008749.1:g.18952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.374G>T MANE Select	ENSP00000361595.2:p.Arg125Leu
ENST00000487556.6:n.452-3982G>T
ENST00000642150.1:n.561G>T
ENST00000647120.1:n.248-3982G>T
ENST00000328249.3:c.104G>T	ENSP00000332439.3:p.Arg35Leu
ENST00000372514.7:c.374G>T	ENSP00000361592.3:p.Arg125Leu
ENST00000372517.6:c.374G>T	ENSP00000361595.2:p.Arg125Leu
ENST00000487556.5:n.247-3982G>T
NM_001017922.1:c.374G>T	NP_001017922.1:p.Arg125Leu
NM_018538.3:c.374G>T	NP_061008.2:p.Arg125Leu
XM_006710313.2:c.374G>T	XP_006710376.1:p.Arg125Leu
XM_011540570.1:c.374G>T	XP_011538872.1:p.Arg125Leu
XM_011540571.1:c.374G>T	XP_011538873.1:p.Arg125Leu
XM_006710313.4:c.374G>T	XP_006710376.1:p.Arg125Leu
XM_011540570.3:c.374G>T	XP_011538872.1:p.Arg125Leu
XM_011540571.3:c.374G>T	XP_011538873.1:p.Arg125Leu
NM_001017922.2:c.374G>T MANE Select	NP_001017922.1:p.Arg125Leu
NM_018538.4:c.374G>T	NP_061008.2:p.Arg125Leu