Canonical Allele Identifier: CA347652551

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 825582
• ClinVar RCV Id: RCV001023790
• dbSNP Id: rs149034651
• MyVariant Identifiers: chr2:g.96919740C>A (hg19) ; chr2:g.96254002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254002C>A , CM000664.2:g.96254002C>A	GRCh38
NC_000002.11:g.96919740C>A , CM000664.1:g.96919740C>A	GRCh37
NC_000002.10:g.96283467C>A	NCBI36
NG_027695.1:g.17012G>T , LRG_528:g.17012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.523G>T MANE Select	ENSP00000258439.3:p.Val175Phe
ENST00000258439.7:c.523G>T	ENSP00000258439.2:p.Val175Phe
ENST00000432959.1:c.523G>T	ENSP00000416660.1:p.Val175Phe
ENST00000435268.1:c.271G>T	ENSP00000411810.1:p.Val91Phe
NM_001193304.2:c.523G>T	NP_001180233.1:p.Val175Phe
NM_017849.3:c.523G>T , LRG_528t1:c.523G>T	NP_060319.1:p.Val175Phe
XM_017004450.1:c.-396G>T	XP_016859939.1:n.-396G>T
XM_017004452.1:c.271G>T	XP_016859941.1:p.Val91Phe
NM_001193304.3:c.523G>T	NP_001180233.1:p.Val175Phe
NM_017849.4:c.523G>T MANE Select	NP_060319.1:p.Val175Phe