Canonical Allele Identifier: CA391203336

Gene: TMEM121

Linked Data

• gnomAD v4: 14-105529681-C-A
• MyVariant Identifiers: chr14:g.105996018C>A (hg19) ; chr14:g.105529681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105529681C>A , CM000676.2:g.105529681C>A	GRCh38
NC_000014.8:g.105996018C>A , CM000676.1:g.105996018C>A	GRCh37
NC_000014.7:g.105067063C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392519.7:c.847C>A MANE Select	ENSP00000376304.2:p.Leu283Met
ENST00000392519.6:c.847C>A	ENSP00000376304.2:p.Leu283Met
ENST00000431372.1:c.847C>A	ENSP00000407456.1:p.Leu283Met
NM_025268.2:c.847C>A	NP_079544.1:p.Leu283Met
XM_005268101.2:c.847C>A	XP_005268158.1:p.Leu283Met
XM_006720261.2:c.847C>A	XP_006720324.1:p.Leu283Met
XM_011537185.1:c.847C>A	XP_011535487.1:p.Leu283Met
XM_011537186.1:c.847C>A	XP_011535488.1:p.Leu283Met
NM_001331238.1:c.847C>A	NP_001318167.1:p.Leu283Met
NM_025268.3:c.847C>A	NP_079544.1:p.Leu283Met
XM_006720261.3:c.847C>A	XP_006720324.1:p.Leu283Met
NM_025268.4:c.847C>A MANE Select	NP_079544.1:p.Leu283Met
NM_001331238.2:c.847C>A	NP_001318167.1:p.Leu283Met