Canonical Allele Identifier: CA427807832

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 760978
• ClinVar RCV Id: RCV002066176
• dbSNP Id: rs1270359170
• MyVariant Identifiers: chr2:g.96919660T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253922T>G , CM000664.2:g.96253922T>G	GRCh38
NC_000002.11:g.96919660T>G , CM000664.1:g.96919660T>G	GRCh37
NC_000002.10:g.96283387T>G	NCBI36
NG_027695.1:g.17092A>C , LRG_528:g.17092A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.603A>C MANE Select	ENSP00000258439.3:p.Thr201=
ENST00000258439.7:c.603A>C	ENSP00000258439.2:p.Thr201=
ENST00000432959.1:c.603A>C	ENSP00000416660.1:p.Thr201=
ENST00000435268.1:c.351A>C	ENSP00000411810.1:p.Thr117=
NM_001193304.2:c.603A>C	NP_001180233.1:p.Thr201=
NM_017849.3:c.603A>C , LRG_528t1:c.603A>C	NP_060319.1:p.Thr201=
XM_017004450.1:c.-316A>C	XP_016859939.1:n.-316A>C
XM_017004452.1:c.351A>C	XP_016859941.1:p.Thr117=
NM_001193304.3:c.603A>C	NP_001180233.1:p.Thr201=
NM_017849.4:c.603A>C MANE Select	NP_060319.1:p.Thr201=