Canonical Allele Identifier: CA288356295

Gene: PEMT

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255389.10:c.283G>C MANE Select	ENSP00000255389.5:p.Val95Leu
ENST00000255389.9:c.283G>C	ENSP00000255389.5:p.Val95Leu
ENST00000395781.6:c.283G>C	ENSP00000379127.2:p.Val95Leu
ENST00000395782.5:c.172G>C	ENSP00000379128.1:p.Val58Leu
ENST00000395783.5:c.172G>C	ENSP00000379129.1:p.Val58Leu
ENST00000421096.5:n.307G>C
ENST00000435340.6:c.217G>C	ENSP00000391288.2:p.Val73Leu
ENST00000461404.1:c.*45G>C	ENSP00000463713.1:n.*45G>C
ENST00000472446.1:n.216-9663G>C
ENST00000580147.5:c.205-12772G>C	ENSP00000463112.1:n.205-12772G>C
NM_001267551.1:c.217G>C	NP_001254480.1:p.Val73Leu
NM_001267552.1:c.283G>C	NP_001254481.1:p.Val95Leu
NM_007169.2:c.172G>C	NP_009100.2:p.Val58Leu
NM_148172.2:c.283G>C	NP_680477.1:p.Val95Leu
NM_148173.1:c.172G>C	NP_680478.1:p.Val58Leu
XM_006721418.2:c.220G>C	XP_006721481.2:p.Val74Leu
XM_006721418.4:c.220G>C	XP_006721481.2:p.Val74Leu
XM_024450532.1:c.172G>C	XP_024306300.1:p.Val58Leu
NM_148172.3:c.283G>C MANE Select	NP_680477.1:p.Val95Leu
NM_001267551.2:c.217G>C	NP_001254480.1:p.Val73Leu
NM_001267552.2:c.283G>C	NP_001254481.1:p.Val95Leu
NM_007169.3:c.172G>C	NP_009100.2:p.Val58Leu
NM_148173.2:c.172G>C	NP_680478.1:p.Val58Leu