Canonical Allele Identifier: CA1777267

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 826330
• ClinVar RCV Id: RCV001025151 ; RCV001458622
• dbSNP Id: rs368792184
• ExAC: 2:96919630 G / A
• gnomAD v2: 2-96919630-G-A
• gnomAD v3: 2-96253892-G-A
• gnomAD v4: 2-96253892-G-A
• MyVariant Identifiers: chr2:g.96919630G>A (hg19) ; chr2:g.96253892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253892G>A , CM000664.2:g.96253892G>A	GRCh38
NC_000002.11:g.96919630G>A , CM000664.1:g.96919630G>A	GRCh37
NC_000002.10:g.96283357G>A	NCBI36
NG_027695.1:g.17122C>T , LRG_528:g.17122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.633C>T MANE Select	ENSP00000258439.3:p.Leu211=
ENST00000258439.7:c.633C>T	ENSP00000258439.2:p.Leu211=
ENST00000432959.1:c.633C>T	ENSP00000416660.1:p.Leu211=
ENST00000435268.1:c.381C>T	ENSP00000411810.1:p.Leu127=
NM_001193304.2:c.633C>T	NP_001180233.1:p.Leu211=
NM_017849.3:c.633C>T , LRG_528t1:c.633C>T	NP_060319.1:p.Leu211=
XM_017004450.1:c.-286C>T	XP_016859939.1:n.-286C>T
XM_017004452.1:c.381C>T	XP_016859941.1:p.Leu127=
NM_001193304.3:c.633C>T	NP_001180233.1:p.Leu211=
NM_017849.4:c.633C>T MANE Select	NP_060319.1:p.Leu211=