Canonical Allele Identifier: CA347652925

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96254062-A-C
• MyVariant Identifiers: chr2:g.96919800A>C (hg19) ; chr2:g.96254062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254062A>C , CM000664.2:g.96254062A>C	GRCh38
NC_000002.11:g.96919800A>C , CM000664.1:g.96919800A>C	GRCh37
NC_000002.10:g.96283527A>C	NCBI36
NG_027695.1:g.16952T>G , LRG_528:g.16952T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.463T>G MANE Select	ENSP00000258439.3:p.Leu155Val
ENST00000258439.7:c.463T>G	ENSP00000258439.2:p.Leu155Val
ENST00000432959.1:c.463T>G	ENSP00000416660.1:p.Leu155Val
ENST00000435268.1:c.211T>G	ENSP00000411810.1:p.Leu71Val
NM_001193304.2:c.463T>G	NP_001180233.1:p.Leu155Val
NM_017849.3:c.463T>G , LRG_528t1:c.463T>G	NP_060319.1:p.Leu155Val
XM_017004450.1:c.-456T>G	XP_016859939.1:n.-456T>G
XM_017004452.1:c.211T>G	XP_016859941.1:p.Leu71Val
NM_001193304.3:c.463T>G	NP_001180233.1:p.Leu155Val
NM_017849.4:c.463T>G MANE Select	NP_060319.1:p.Leu155Val