Canonical Allele Identifier: CA347653191

Gene: TMEM127

Linked Data

• MyVariant Identifiers: chr2:g.96919851G>T (hg19) ; chr2:g.96254113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254113G>T , CM000664.2:g.96254113G>T	GRCh38
NC_000002.11:g.96919851G>T , CM000664.1:g.96919851G>T	GRCh37
NC_000002.10:g.96283578G>T	NCBI36
NG_027695.1:g.16901C>A , LRG_528:g.16901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.412C>A MANE Select	ENSP00000258439.3:p.Leu138Met
ENST00000258439.7:c.412C>A	ENSP00000258439.2:p.Leu138Met
ENST00000432959.1:c.412C>A	ENSP00000416660.1:p.Leu138Met
ENST00000435268.1:c.160C>A	ENSP00000411810.1:p.Leu54Met
NM_001193304.2:c.412C>A	NP_001180233.1:p.Leu138Met
NM_017849.3:c.412C>A , LRG_528t1:c.412C>A	NP_060319.1:p.Leu138Met
XM_017004450.1:c.-507C>A	XP_016859939.1:n.-507C>A
XM_017004452.1:c.160C>A	XP_016859941.1:p.Leu54Met
NM_001193304.3:c.412C>A	NP_001180233.1:p.Leu138Met
NM_017849.4:c.412C>A MANE Select	NP_060319.1:p.Leu138Met