Canonical Allele Identifier: CA216815141

Gene: MTG1

Linked Data

• dbSNP Id: rs188217586
• gnomAD v2: 10-135225642-G-C
• gnomAD v3: 10-133412138-G-C
• gnomAD v4: 10-133412138-G-C
• MyVariant Identifiers: chr10:g.135225642G>C (hg19) ; chr10:g.133412138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133412138G>C , CM000672.2:g.133412138G>C	GRCh38
NC_000010.10:g.135225642G>C , CM000672.1:g.135225642G>C	GRCh37
NC_000010.9:g.135075632G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317502.11:c.753-7342G>C MANE Select	ENSP00000323047.6:n.753-7342G>C
ENST00000468317.3:c.*677-7342G>C	ENSP00000436767.2:n.*677-7342G>C
ENST00000317502.10:c.753-7342G>C	ENSP00000323047.6:n.753-7342G>C
ENST00000432508.3:c.600-7342G>C	ENSP00000393480.2:n.600-7342G>C
ENST00000460848.5:n.1336-7342G>C
ENST00000468317.2:c.768-7342G>C	ENSP00000436767.1:n.768-7342G>C
ENST00000473735.1:n.1607-7342G>C
ENST00000477902.6:c.630-7342G>C	ENSP00000475596.1:n.630-7342G>C
NM_138384.2:c.753-7342G>C	NP_612393.2:n.753-7342G>C
NM_138384.3:c.753-7342G>C	NP_612393.2:n.753-7342G>C
NM_138384.4:c.753-7342G>C MANE Select	NP_612393.2:n.753-7342G>C