Canonical Allele Identifier: CA1777334

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 463845
• ClinVar RCV Id: RCV000529201 ; RCV001021476
• dbSNP Id: rs756680897
• ExAC: 2:96920587 G / A
• gnomAD v2: 2-96920587-G-A
• gnomAD v3: 2-96254849-G-A
• gnomAD v4: 2-96254849-G-A
• COSMIC: COSM267586
• MyVariant Identifiers: chr2:g.96920587G>A (hg19) ; chr2:g.96254849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254849G>A , CM000664.2:g.96254849G>A	GRCh38
NC_000002.11:g.96920587G>A , CM000664.1:g.96920587G>A	GRCh37
NC_000002.10:g.96284314G>A	NCBI36
NG_027695.1:g.16165C>T , LRG_528:g.16165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.393C>T MANE Select	ENSP00000258439.3:p.Phe131=
ENST00000258439.7:c.393C>T	ENSP00000258439.2:p.Phe131=
ENST00000432959.1:c.393C>T	ENSP00000416660.1:p.Phe131=
ENST00000435268.1:c.141C>T	ENSP00000411810.1:p.Phe47=
NM_001193304.2:c.393C>T	NP_001180233.1:p.Phe131=
NM_017849.3:c.393C>T , LRG_528t1:c.393C>T	NP_060319.1:p.Phe131=
XM_017004450.1:c.-526C>T	XP_016859939.1:n.-526C>T
XM_017004452.1:c.141C>T	XP_016859941.1:p.Phe47=
NM_001193304.3:c.393C>T	NP_001180233.1:p.Phe131=
NM_017849.4:c.393C>T MANE Select	NP_060319.1:p.Phe131=