Canonical Allele Identifier: CA347652589

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1745711
• ClinVar RCV Id: RCV002338303 ; RCV003102696
• dbSNP Id: rs2104284617
• gnomAD v4: 2-96254010-G-A
• MyVariant Identifiers: chr2:g.96919748G>A (hg19) ; chr2:g.96254010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254010G>A , CM000664.2:g.96254010G>A	GRCh38
NC_000002.11:g.96919748G>A , CM000664.1:g.96919748G>A	GRCh37
NC_000002.10:g.96283475G>A	NCBI36
NG_027695.1:g.17004C>T , LRG_528:g.17004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.515C>T MANE Select	ENSP00000258439.3:p.Thr172Ile
ENST00000258439.7:c.515C>T	ENSP00000258439.2:p.Thr172Ile
ENST00000432959.1:c.515C>T	ENSP00000416660.1:p.Thr172Ile
ENST00000435268.1:c.263C>T	ENSP00000411810.1:p.Thr88Ile
NM_001193304.2:c.515C>T	NP_001180233.1:p.Thr172Ile
NM_017849.3:c.515C>T , LRG_528t1:c.515C>T	NP_060319.1:p.Thr172Ile
XM_017004450.1:c.-404C>T	XP_016859939.1:n.-404C>T
XM_017004452.1:c.263C>T	XP_016859941.1:p.Thr88Ile
NM_001193304.3:c.515C>T	NP_001180233.1:p.Thr172Ile
NM_017849.4:c.515C>T MANE Select	NP_060319.1:p.Thr172Ile