Canonical Allele Identifier: CA378713101

Gene: MGMT

Linked Data

• ClinVar Variation Id: 2217646
• ClinVar RCV Id: RCV004078616
• dbSNP Id: rs777316575
• gnomAD v3: 10-129766873-G-C
• gnomAD v4: 10-129766873-G-C
• MyVariant Identifiers: chr10:g.131565137G>C (hg19) ; chr10:g.129766873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766873G>C , CM000672.2:g.129766873G>C	GRCh38
NC_000010.10:g.131565137G>C , CM000672.1:g.131565137G>C	GRCh37
NC_000010.9:g.131455127G>C	NCBI36
NG_052673.1:g.304690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.593G>C	ENSP00000302111.7:p.Trp198Ser
ENST00000651593.1:c.500G>C MANE Select	ENSP00000498729.1:p.Trp167Ser
ENST00000306010.7:c.593G>C	ENSP00000302111.7:p.Trp198Ser
NM_002412.3:c.593G>C	NP_002403.2:p.Trp198Ser
NM_002412.4:c.593G>C	NP_002403.2:p.Trp198Ser
XM_005252682.2:c.500G>C	XP_005252739.1:p.Trp167Ser
XM_006717863.2:c.323G>C	XP_006717926.1:p.Trp108Ser
XM_011539817.1:c.509G>C	XP_011538119.1:p.Trp170Ser
NM_002412.5:c.500G>C MANE Select	NP_002403.3:p.Trp167Ser
XM_017016275.1:c.323G>C	XP_016871764.1:p.Trp108Ser