Canonical Allele Identifier: CA347653415

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1003684
• ClinVar RCV Id: RCV001300271
• dbSNP Id: rs1684170958
• MyVariant Identifiers: chr2:g.96920645A>G (hg19) ; chr2:g.96254907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254907A>G , CM000664.2:g.96254907A>G	GRCh38
NC_000002.11:g.96920645A>G , CM000664.1:g.96920645A>G	GRCh37
NC_000002.10:g.96284372A>G	NCBI36
NG_027695.1:g.16107T>C , LRG_528:g.16107T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.335T>C MANE Select	ENSP00000258439.3:p.Leu112Pro
ENST00000258439.7:c.335T>C	ENSP00000258439.2:p.Leu112Pro
ENST00000432959.1:c.335T>C	ENSP00000416660.1:p.Leu112Pro
ENST00000435268.1:c.83T>C	ENSP00000411810.1:p.Leu28Pro
NM_001193304.2:c.335T>C	NP_001180233.1:p.Leu112Pro
NM_017849.3:c.335T>C , LRG_528t1:c.335T>C	NP_060319.1:p.Leu112Pro
XM_017004450.1:c.-584T>C	XP_016859939.1:n.-584T>C
XM_017004452.1:c.83T>C	XP_016859941.1:p.Leu28Pro
NM_001193304.3:c.335T>C	NP_001180233.1:p.Leu112Pro
NM_017849.4:c.335T>C MANE Select	NP_060319.1:p.Leu112Pro