Canonical Allele Identifier: CA347652180

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 650380
• ClinVar RCV Id: RCV000805521
• dbSNP Id: rs1573969123
• MyVariant Identifiers: chr2:g.96919679A>C (hg19) ; chr2:g.96253941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253941A>C , CM000664.2:g.96253941A>C	GRCh38
NC_000002.11:g.96919679A>C , CM000664.1:g.96919679A>C	GRCh37
NC_000002.10:g.96283406A>C	NCBI36
NG_027695.1:g.17073T>G , LRG_528:g.17073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.584T>G MANE Select	ENSP00000258439.3:p.Leu195Arg
ENST00000258439.7:c.584T>G	ENSP00000258439.2:p.Leu195Arg
ENST00000432959.1:c.584T>G	ENSP00000416660.1:p.Leu195Arg
ENST00000435268.1:c.332T>G	ENSP00000411810.1:p.Leu111Arg
NM_001193304.2:c.584T>G	NP_001180233.1:p.Leu195Arg
NM_017849.3:c.584T>G , LRG_528t1:c.584T>G	NP_060319.1:p.Leu195Arg
XM_017004450.1:c.-335T>G	XP_016859939.1:n.-335T>G
XM_017004452.1:c.332T>G	XP_016859941.1:p.Leu111Arg
NM_001193304.3:c.584T>G	NP_001180233.1:p.Leu195Arg
NM_017849.4:c.584T>G MANE Select	NP_060319.1:p.Leu195Arg