Canonical Allele Identifier: CA1777387

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 463841
• ClinVar RCV Id: RCV000552456 ; RCV001012652 ; RCV003459232
• dbSNP Id: rs751779219
• ExAC: 2:96930954 T / C
• gnomAD v2: 2-96930954-T-C
• gnomAD v3: 2-96265216-T-C
• gnomAD v4: 2-96265216-T-C
• MyVariant Identifiers: chr2:g.96930954T>C (hg19) ; chr2:g.96265216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265216T>C , CM000664.2:g.96265216T>C	GRCh38
NC_000002.11:g.96930954T>C , CM000664.1:g.96930954T>C	GRCh37
NC_000002.10:g.96294681T>C	NCBI36
NG_027695.1:g.5798A>G , LRG_528:g.5798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.166A>G MANE Select	ENSP00000258439.3:p.Ile56Val
ENST00000258439.7:c.166A>G	ENSP00000258439.2:p.Ile56Val
ENST00000432959.1:c.166A>G	ENSP00000416660.1:p.Ile56Val
NM_001193304.2:c.166A>G	NP_001180233.1:p.Ile56Val
NM_017849.3:c.166A>G , LRG_528t1:c.166A>G	NP_060319.1:p.Ile56Val
NM_001193304.3:c.166A>G	NP_001180233.1:p.Ile56Val
NM_017849.4:c.166A>G MANE Select	NP_060319.1:p.Ile56Val