Canonical Allele Identifier: CA8417849

Gene: PEMT

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17522317C>T , CM000679.2:g.17522317C>T	GRCh38
NC_000017.10:g.17425631C>T , CM000679.1:g.17425631C>T	GRCh37
NC_000017.9:g.17366356C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.283G>A MANE Select	ENSP00000255389.5:p.Val95Ile
ENST00000255389.9:c.283G>A	ENSP00000255389.5:p.Val95Ile
ENST00000395781.6:c.283G>A	ENSP00000379127.2:p.Val95Ile
ENST00000395782.5:c.172G>A	ENSP00000379128.1:p.Val58Ile
ENST00000395783.5:c.172G>A	ENSP00000379129.1:p.Val58Ile
ENST00000421096.5:n.307G>A
ENST00000435340.6:c.217G>A	ENSP00000391288.2:p.Val73Ile
ENST00000461404.1:c.*45G>A	ENSP00000463713.1:n.*45G>A
ENST00000472446.1:n.216-9663G>A
ENST00000580147.5:c.205-12772G>A	ENSP00000463112.1:n.205-12772G>A
NM_001267551.1:c.217G>A	NP_001254480.1:p.Val73Ile
NM_001267552.1:c.283G>A	NP_001254481.1:p.Val95Ile
NM_007169.2:c.172G>A	NP_009100.2:p.Val58Ile
NM_148172.2:c.283G>A	NP_680477.1:p.Val95Ile
NM_148173.1:c.172G>A	NP_680478.1:p.Val58Ile
XM_006721418.2:c.220G>A	XP_006721481.2:p.Val74Ile
XM_006721418.4:c.220G>A	XP_006721481.2:p.Val74Ile
XM_024450532.1:c.172G>A	XP_024306300.1:p.Val58Ile
NM_148172.3:c.283G>A MANE Select	NP_680477.1:p.Val95Ile
NM_001267551.2:c.217G>A	NP_001254480.1:p.Val73Ile
NM_001267552.2:c.283G>A	NP_001254481.1:p.Val95Ile
NM_007169.3:c.172G>A	NP_009100.2:p.Val58Ile
NM_148173.2:c.172G>A	NP_680478.1:p.Val58Ile