Canonical Allele Identifier: CA347653485

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1055042
• ClinVar RCV Id: RCV001363646
• dbSNP Id: rs2104287512
• gnomAD v4: 2-96254930-G-C
• MyVariant Identifiers: chr2:g.96920668G>C (hg19) ; chr2:g.96254930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254930G>C , CM000664.2:g.96254930G>C	GRCh38
NC_000002.11:g.96920668G>C , CM000664.1:g.96920668G>C	GRCh37
NC_000002.10:g.96284395G>C	NCBI36
NG_027695.1:g.16084C>G , LRG_528:g.16084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.312C>G MANE Select	ENSP00000258439.3:p.Ile104Met
ENST00000258439.7:c.312C>G	ENSP00000258439.2:p.Ile104Met
ENST00000432959.1:c.312C>G	ENSP00000416660.1:p.Ile104Met
ENST00000435268.1:c.60C>G	ENSP00000411810.1:p.Ile20Met
NM_001193304.2:c.312C>G	NP_001180233.1:p.Ile104Met
NM_017849.3:c.312C>G , LRG_528t1:c.312C>G	NP_060319.1:p.Ile104Met
XM_017004450.1:c.-607C>G	XP_016859939.1:n.-607C>G
XM_017004452.1:c.60C>G	XP_016859941.1:p.Ile20Met
NM_001193304.3:c.312C>G	NP_001180233.1:p.Ile104Met
NM_017849.4:c.312C>G MANE Select	NP_060319.1:p.Ile104Met