Canonical Allele Identifier: CA347652165

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684146217
• gnomAD v4: 2-96253938-A-G
• MyVariant Identifiers: chr2:g.96919676A>G (hg19) ; chr2:g.96253938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253938A>G , CM000664.2:g.96253938A>G	GRCh38
NC_000002.11:g.96919676A>G , CM000664.1:g.96919676A>G	GRCh37
NC_000002.10:g.96283403A>G	NCBI36
NG_027695.1:g.17076T>C , LRG_528:g.17076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.587T>C MANE Select	ENSP00000258439.3:p.Leu196Pro
ENST00000258439.7:c.587T>C	ENSP00000258439.2:p.Leu196Pro
ENST00000432959.1:c.587T>C	ENSP00000416660.1:p.Leu196Pro
ENST00000435268.1:c.335T>C	ENSP00000411810.1:p.Leu112Pro
NM_001193304.2:c.587T>C	NP_001180233.1:p.Leu196Pro
NM_017849.3:c.587T>C , LRG_528t1:c.587T>C	NP_060319.1:p.Leu196Pro
XM_017004450.1:c.-332T>C	XP_016859939.1:n.-332T>C
XM_017004452.1:c.335T>C	XP_016859941.1:p.Leu112Pro
NM_001193304.3:c.587T>C	NP_001180233.1:p.Leu196Pro
NM_017849.4:c.587T>C MANE Select	NP_060319.1:p.Leu196Pro