Canonical Allele Identifier: CA347653754

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1791601
• ClinVar RCV Id: RCV002455470
• MyVariant Identifiers: chr2:g.96920735T>A (hg19) ; chr2:g.96254997T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254997T>A , CM000664.2:g.96254997T>A	GRCh38
NC_000002.11:g.96920735T>A , CM000664.1:g.96920735T>A	GRCh37
NC_000002.10:g.96284462T>A	NCBI36
NG_027695.1:g.16017A>T , LRG_528:g.16017A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245A>T MANE Select	ENSP00000258439.3:p.Asp82Val
ENST00000258439.7:c.245A>T	ENSP00000258439.2:p.Asp82Val
ENST00000432959.1:c.245A>T	ENSP00000416660.1:p.Asp82Val
ENST00000435268.1:c.-8A>T	ENSP00000411810.1:n.-8A>T
NM_001193304.2:c.245A>T	NP_001180233.1:p.Asp82Val
NM_017849.3:c.245A>T , LRG_528t1:c.245A>T	NP_060319.1:p.Asp82Val
XM_017004450.1:c.-674A>T	XP_016859939.1:n.-674A>T
XM_017004452.1:c.-8A>T	XP_016859941.1:n.-8A>T
NM_001193304.3:c.245A>T	NP_001180233.1:p.Asp82Val
NM_017849.4:c.245A>T MANE Select	NP_060319.1:p.Asp82Val