Canonical Allele Identifier: CA1777388

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1776107
• ClinVar RCV Id: RCV002398624 ; RCV003100742
• dbSNP Id: rs761977373
• ExAC: 2:96930961 C / A
• gnomAD v2: 2-96930961-C-A
• gnomAD v4: 2-96265223-C-A
• MyVariant Identifiers: chr2:g.96930961C>A (hg19) ; chr2:g.96265223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265223C>A , CM000664.2:g.96265223C>A	GRCh38
NC_000002.11:g.96930961C>A , CM000664.1:g.96930961C>A	GRCh37
NC_000002.10:g.96294688C>A	NCBI36
NG_027695.1:g.5791G>T , LRG_528:g.5791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.159G>T MANE Select	ENSP00000258439.3:p.Trp53Cys
ENST00000258439.7:c.159G>T	ENSP00000258439.2:p.Trp53Cys
ENST00000432959.1:c.159G>T	ENSP00000416660.1:p.Trp53Cys
NM_001193304.2:c.159G>T	NP_001180233.1:p.Trp53Cys
NM_017849.3:c.159G>T , LRG_528t1:c.159G>T	NP_060319.1:p.Trp53Cys
NM_001193304.3:c.159G>T	NP_001180233.1:p.Trp53Cys
NM_017849.4:c.159G>T MANE Select	NP_060319.1:p.Trp53Cys