Canonical Allele Identifier: CA398543062

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506253-G-C
• MyVariant Identifiers: chr17:g.17409567G>C (hg19) ; chr17:g.17506253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506253G>C , CM000679.2:g.17506253G>C	GRCh38
NC_000017.10:g.17409567G>C , CM000679.1:g.17409567G>C	GRCh37
NC_000017.9:g.17350292G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.627C>G MANE Select	ENSP00000255389.5:p.Thr209=
ENST00000255389.9:c.627C>G	ENSP00000255389.5:p.Thr209=
ENST00000395781.6:c.658C>G	ENSP00000379127.2:p.Leu220Val
ENST00000395782.5:c.516C>G	ENSP00000379128.1:p.Thr172=
ENST00000395783.5:c.516C>G	ENSP00000379129.1:p.Thr172=
ENST00000435340.6:c.595C>G	ENSP00000391288.2:p.Leu199Val
ENST00000477595.5:n.121C>G
ENST00000484838.6:n.491C>G
ENST00000490392.5:n.361C>G
ENST00000580147.5:c.*125C>G	ENSP00000463112.1:n.*125C>G
ENST00000582268.5:n.71C>G
NM_001267551.1:c.561C>G	NP_001254480.1:p.Thr187=
NM_001267552.1:c.658C>G	NP_001254481.1:p.Leu220Val
NM_007169.2:c.516C>G	NP_009100.2:p.Thr172=
NM_148172.2:c.627C>G	NP_680477.1:p.Thr209=
NM_148173.1:c.516C>G	NP_680478.1:p.Thr172=
XM_006721418.2:c.564C>G	XP_006721481.2:p.Thr188=
XM_006721418.4:c.564C>G	XP_006721481.2:p.Thr188=
XM_017024016.1:c.294C>G	XP_016879505.1:p.Thr98=
XM_024450532.1:c.516C>G	XP_024306300.1:p.Thr172=
NM_148172.3:c.627C>G MANE Select	NP_680477.1:p.Thr209=
NM_001267551.2:c.561C>G	NP_001254480.1:p.Thr187=
NM_001267552.2:c.658C>G	NP_001254481.1:p.Leu220Val
NM_007169.3:c.516C>G	NP_009100.2:p.Thr172=
NM_148173.2:c.516C>G	NP_680478.1:p.Thr172=