Canonical Allele Identifier: CA347653264

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 824508
• ClinVar RCV Id: RCV001021678 ; RCV001242437
• dbSNP Id: rs1573970063
• MyVariant Identifiers: chr2:g.96920579A>T (hg19) ; chr2:g.96254841A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254841A>T , CM000664.2:g.96254841A>T	GRCh38
NC_000002.11:g.96920579A>T , CM000664.1:g.96920579A>T	GRCh37
NC_000002.10:g.96284306A>T	NCBI36
NG_027695.1:g.16173T>A , LRG_528:g.16173T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.401T>A MANE Select	ENSP00000258439.3:p.Ile134Asn
ENST00000258439.7:c.401T>A	ENSP00000258439.2:p.Ile134Asn
ENST00000432959.1:c.401T>A	ENSP00000416660.1:p.Ile134Asn
ENST00000435268.1:c.149T>A	ENSP00000411810.1:p.Ile50Asn
NM_001193304.2:c.401T>A	NP_001180233.1:p.Ile134Asn
NM_017849.3:c.401T>A , LRG_528t1:c.401T>A	NP_060319.1:p.Ile134Asn
XM_017004450.1:c.-518T>A	XP_016859939.1:n.-518T>A
XM_017004452.1:c.149T>A	XP_016859941.1:p.Ile50Asn
NM_001193304.3:c.401T>A	NP_001180233.1:p.Ile134Asn
NM_017849.4:c.401T>A MANE Select	NP_060319.1:p.Ile134Asn