Canonical Allele Identifier: CA1777268

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 405198
• ClinVar RCV Id: RCV000457015 ; RCV002356647 ; RCV003899903
• dbSNP Id: rs751044006
• ExAC: 2:96919643 G / A
• gnomAD v2: 2-96919643-G-A
• gnomAD v4: 2-96253905-G-A
• COSMIC: COSM241926
• MyVariant Identifiers: chr2:g.96919643G>A (hg19) ; chr2:g.96253905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253905G>A , CM000664.2:g.96253905G>A	GRCh38
NC_000002.11:g.96919643G>A , CM000664.1:g.96919643G>A	GRCh37
NC_000002.10:g.96283370G>A	NCBI36
NG_027695.1:g.17109C>T , LRG_528:g.17109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.620C>T MANE Select	ENSP00000258439.3:p.Ala207Val
ENST00000258439.7:c.620C>T	ENSP00000258439.2:p.Ala207Val
ENST00000432959.1:c.620C>T	ENSP00000416660.1:p.Ala207Val
ENST00000435268.1:c.368C>T	ENSP00000411810.1:p.Ala123Val
NM_001193304.2:c.620C>T	NP_001180233.1:p.Ala207Val
NM_017849.3:c.620C>T , LRG_528t1:c.620C>T	NP_060319.1:p.Ala207Val
XM_017004450.1:c.-299C>T	XP_016859939.1:n.-299C>T
XM_017004452.1:c.368C>T	XP_016859941.1:p.Ala123Val
NM_001193304.3:c.620C>T	NP_001180233.1:p.Ala207Val
NM_017849.4:c.620C>T MANE Select	NP_060319.1:p.Ala207Val