Canonical Allele Identifier: CA2580606260

Gene: PEMT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17516885G>T , CM000679.2:g.17516885G>T	GRCh38
NC_000017.10:g.17420199G>T , CM000679.1:g.17420199G>T	GRCh37
NC_000017.9:g.17360924G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_148172.3:c.321-4231C>A MANE Select	NP_680477.1:n.321-4231C>A
ENST00000255389.10:c.321-4231C>A MANE Select	ENSP00000255389.5:n.321-4231C>A
NM_001267551.1:c.255-4231C>A	NP_001254480.1:n.255-4231C>A
NM_001267551.2:c.255-4231C>A	NP_001254480.1:n.255-4231C>A
NM_001267552.1:c.321-4231C>A	NP_001254481.1:n.321-4231C>A
NM_001267552.2:c.321-4231C>A	NP_001254481.1:n.321-4231C>A
NM_007169.2:c.210-4231C>A	NP_009100.2:n.210-4231C>A
NM_007169.3:c.210-4231C>A	NP_009100.2:n.210-4231C>A
NM_148172.2:c.321-4231C>A	NP_680477.1:n.321-4231C>A
NM_148173.1:c.210-4231C>A	NP_680478.1:n.210-4231C>A
NM_148173.2:c.210-4231C>A	NP_680478.1:n.210-4231C>A
ENST00000255389.9:c.321-4231C>A	ENSP00000255389.5:n.321-4231C>A
ENST00000395781.6:c.321-4231C>A	ENSP00000379127.2:n.321-4231C>A
ENST00000395782.5:c.210-4231C>A	ENSP00000379128.1:n.210-4231C>A
ENST00000395783.5:c.210-4231C>A	ENSP00000379129.1:n.210-4231C>A
ENST00000421096.5:n.345-4231C>A
ENST00000435340.6:c.255-4231C>A	ENSP00000391288.2:n.255-4231C>A
ENST00000461404.1:c.*83-4231C>A	ENSP00000463713.1:n.*83-4231C>A
ENST00000472446.1:n.216-4231C>A
ENST00000484838.6:n.184+1089C>A
ENST00000490392.5:n.54+2142C>A
ENST00000580147.5:c.205-7340C>A	ENSP00000463112.1:n.205-7340C>A
XM_006721418.2:c.258-4231C>A	XP_006721481.2:n.258-4231C>A
XM_006721418.4:c.258-4231C>A	XP_006721481.2:n.258-4231C>A
XM_017024016.1:c.-14+1089C>A	XP_016879505.1:n.-14+1089C>A
XM_024450532.1:c.210-4231C>A	XP_024306300.1:n.210-4231C>A