Canonical Allele Identifier: CA339948969

Gene: ERMAP

Linked Data

• MyVariant Identifiers: chr1:g.43296468G>C (hg19) ; chr1:g.42830797G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830797G>C , CM000663.2:g.42830797G>C	GRCh38
NC_000001.10:g.43296468G>C , CM000663.1:g.43296468G>C	GRCh37
NC_000001.9:g.43069055G>C	NCBI36
NG_008749.1:g.18693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.115G>C MANE Select	ENSP00000361595.2:p.Val39Leu
ENST00000487556.6:n.452-4241G>C
ENST00000642150.1:n.302G>C
ENST00000647120.1:n.248-4241G>C
ENST00000328249.3:c.-156G>C	ENSP00000332439.3:n.-156G>C
ENST00000372514.7:c.115G>C	ENSP00000361592.3:p.Val39Leu
ENST00000372517.6:c.115G>C	ENSP00000361595.2:p.Val39Leu
ENST00000487556.5:n.247-4241G>C
NM_001017922.1:c.115G>C	NP_001017922.1:p.Val39Leu
NM_018538.3:c.115G>C	NP_061008.2:p.Val39Leu
XM_006710313.2:c.115G>C	XP_006710376.1:p.Val39Leu
XM_011540570.1:c.115G>C	XP_011538872.1:p.Val39Leu
XM_011540571.1:c.115G>C	XP_011538873.1:p.Val39Leu
XM_006710313.4:c.115G>C	XP_006710376.1:p.Val39Leu
XM_011540570.3:c.115G>C	XP_011538872.1:p.Val39Leu
XM_011540571.3:c.115G>C	XP_011538873.1:p.Val39Leu
NM_001017922.2:c.115G>C MANE Select	NP_001017922.1:p.Val39Leu
NM_018538.4:c.115G>C	NP_061008.2:p.Val39Leu