Canonical Allele Identifier: CA398543047

Gene: PEMT

Linked Data

• MyVariant Identifiers: chr17:g.17409562A>C (hg19) ; chr17:g.17506248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506248A>C , CM000679.2:g.17506248A>C	GRCh38
NC_000017.10:g.17409562A>C , CM000679.1:g.17409562A>C	GRCh37
NC_000017.9:g.17350287A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.632T>G MANE Select	ENSP00000255389.5:p.Ile211Arg
ENST00000255389.9:c.632T>G	ENSP00000255389.5:p.Ile211Arg
ENST00000395781.6:c.663T>G	ENSP00000379127.2:p.His221Gln
ENST00000395782.5:c.521T>G	ENSP00000379128.1:p.Ile174Arg
ENST00000395783.5:c.521T>G	ENSP00000379129.1:p.Ile174Arg
ENST00000435340.6:c.600T>G	ENSP00000391288.2:p.His200Gln
ENST00000477595.5:n.126T>G
ENST00000484838.6:n.496T>G
ENST00000490392.5:n.366T>G
ENST00000580147.5:c.*130T>G	ENSP00000463112.1:n.*130T>G
ENST00000582268.5:n.76T>G
NM_001267551.1:c.566T>G	NP_001254480.1:p.Ile189Arg
NM_001267552.1:c.663T>G	NP_001254481.1:p.His221Gln
NM_007169.2:c.521T>G	NP_009100.2:p.Ile174Arg
NM_148172.2:c.632T>G	NP_680477.1:p.Ile211Arg
NM_148173.1:c.521T>G	NP_680478.1:p.Ile174Arg
XM_006721418.2:c.569T>G	XP_006721481.2:p.Ile190Arg
XM_006721418.4:c.569T>G	XP_006721481.2:p.Ile190Arg
XM_017024016.1:c.299T>G	XP_016879505.1:p.Ile100Arg
XM_024450532.1:c.521T>G	XP_024306300.1:p.Ile174Arg
NM_148172.3:c.632T>G MANE Select	NP_680477.1:p.Ile211Arg
NM_001267551.2:c.566T>G	NP_001254480.1:p.Ile189Arg
NM_001267552.2:c.663T>G	NP_001254481.1:p.His221Gln
NM_007169.3:c.521T>G	NP_009100.2:p.Ile174Arg
NM_148173.2:c.521T>G	NP_680478.1:p.Ile174Arg