Canonical Allele Identifier: CA347653408

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1971639
• ClinVar RCV Id: RCV002740893
• MyVariant Identifiers: chr2:g.96920642A>T (hg19) ; chr2:g.96254904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254904A>T , CM000664.2:g.96254904A>T	GRCh38
NC_000002.11:g.96920642A>T , CM000664.1:g.96920642A>T	GRCh37
NC_000002.10:g.96284369A>T	NCBI36
NG_027695.1:g.16110T>A , LRG_528:g.16110T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.338T>A MANE Select	ENSP00000258439.3:p.Leu113Gln
ENST00000258439.7:c.338T>A	ENSP00000258439.2:p.Leu113Gln
ENST00000432959.1:c.338T>A	ENSP00000416660.1:p.Leu113Gln
ENST00000435268.1:c.86T>A	ENSP00000411810.1:p.Leu29Gln
NM_001193304.2:c.338T>A	NP_001180233.1:p.Leu113Gln
NM_017849.3:c.338T>A , LRG_528t1:c.338T>A	NP_060319.1:p.Leu113Gln
XM_017004450.1:c.-581T>A	XP_016859939.1:n.-581T>A
XM_017004452.1:c.86T>A	XP_016859941.1:p.Leu29Gln
NM_001193304.3:c.338T>A	NP_001180233.1:p.Leu113Gln
NM_017849.4:c.338T>A MANE Select	NP_060319.1:p.Leu113Gln