Canonical Allele Identifier: CA347652649

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1745311
• ClinVar RCV Id: RCV002335969
• MyVariant Identifiers: chr2:g.96919754T>C (hg19) ; chr2:g.96254016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254016T>C , CM000664.2:g.96254016T>C	GRCh38
NC_000002.11:g.96919754T>C , CM000664.1:g.96919754T>C	GRCh37
NC_000002.10:g.96283481T>C	NCBI36
NG_027695.1:g.16998A>G , LRG_528:g.16998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.509A>G MANE Select	ENSP00000258439.3:p.Tyr170Cys
ENST00000258439.7:c.509A>G	ENSP00000258439.2:p.Tyr170Cys
ENST00000432959.1:c.509A>G	ENSP00000416660.1:p.Tyr170Cys
ENST00000435268.1:c.257A>G	ENSP00000411810.1:p.Tyr86Cys
NM_001193304.2:c.509A>G	NP_001180233.1:p.Tyr170Cys
NM_017849.3:c.509A>G , LRG_528t1:c.509A>G	NP_060319.1:p.Tyr170Cys
XM_017004450.1:c.-410A>G	XP_016859939.1:n.-410A>G
XM_017004452.1:c.257A>G	XP_016859941.1:p.Tyr86Cys
NM_001193304.3:c.509A>G	NP_001180233.1:p.Tyr170Cys
NM_017849.4:c.509A>G MANE Select	NP_060319.1:p.Tyr170Cys