Canonical Allele Identifier: CA398543050

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506249-T-C
• MyVariant Identifiers: chr17:g.17409563T>C (hg19) ; chr17:g.17506249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506249T>C , CM000679.2:g.17506249T>C	GRCh38
NC_000017.10:g.17409563T>C , CM000679.1:g.17409563T>C	GRCh37
NC_000017.9:g.17350288T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.631A>G MANE Select	ENSP00000255389.5:p.Ile211Val
ENST00000255389.9:c.631A>G	ENSP00000255389.5:p.Ile211Val
ENST00000395781.6:c.662A>G	ENSP00000379127.2:p.His221Arg
ENST00000395782.5:c.520A>G	ENSP00000379128.1:p.Ile174Val
ENST00000395783.5:c.520A>G	ENSP00000379129.1:p.Ile174Val
ENST00000435340.6:c.599A>G	ENSP00000391288.2:p.His200Arg
ENST00000477595.5:n.125A>G
ENST00000484838.6:n.495A>G
ENST00000490392.5:n.365A>G
ENST00000580147.5:c.*129A>G	ENSP00000463112.1:n.*129A>G
ENST00000582268.5:n.75A>G
NM_001267551.1:c.565A>G	NP_001254480.1:p.Ile189Val
NM_001267552.1:c.662A>G	NP_001254481.1:p.His221Arg
NM_007169.2:c.520A>G	NP_009100.2:p.Ile174Val
NM_148172.2:c.631A>G	NP_680477.1:p.Ile211Val
NM_148173.1:c.520A>G	NP_680478.1:p.Ile174Val
XM_006721418.2:c.568A>G	XP_006721481.2:p.Ile190Val
XM_006721418.4:c.568A>G	XP_006721481.2:p.Ile190Val
XM_017024016.1:c.298A>G	XP_016879505.1:p.Ile100Val
XM_024450532.1:c.520A>G	XP_024306300.1:p.Ile174Val
NM_148172.3:c.631A>G MANE Select	NP_680477.1:p.Ile211Val
NM_001267551.2:c.565A>G	NP_001254480.1:p.Ile189Val
NM_001267552.2:c.662A>G	NP_001254481.1:p.His221Arg
NM_007169.3:c.520A>G	NP_009100.2:p.Ile174Val
NM_148173.2:c.520A>G	NP_680478.1:p.Ile174Val