Canonical Allele Identifier: CA347652461

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1395843
• ClinVar RCV Id: RCV001891487 ; RCV003167018
• dbSNP Id: rs767100341
• MyVariant Identifiers: chr2:g.96919725C>A (hg19) ; chr2:g.96253987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253987C>A , CM000664.2:g.96253987C>A	GRCh38
NC_000002.11:g.96919725C>A , CM000664.1:g.96919725C>A	GRCh37
NC_000002.10:g.96283452C>A	NCBI36
NG_027695.1:g.17027G>T , LRG_528:g.17027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.538G>T MANE Select	ENSP00000258439.3:p.Val180Leu
ENST00000258439.7:c.538G>T	ENSP00000258439.2:p.Val180Leu
ENST00000432959.1:c.538G>T	ENSP00000416660.1:p.Val180Leu
ENST00000435268.1:c.286G>T	ENSP00000411810.1:p.Val96Leu
NM_001193304.2:c.538G>T	NP_001180233.1:p.Val180Leu
NM_017849.3:c.538G>T , LRG_528t1:c.538G>T	NP_060319.1:p.Val180Leu
XM_017004450.1:c.-381G>T	XP_016859939.1:n.-381G>T
XM_017004452.1:c.286G>T	XP_016859941.1:p.Val96Leu
NM_001193304.3:c.538G>T	NP_001180233.1:p.Val180Leu
NM_017849.4:c.538G>T MANE Select	NP_060319.1:p.Val180Leu