Canonical Allele Identifier: CA398543067

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506255-T-C
• MyVariant Identifiers: chr17:g.17409569T>C (hg19) ; chr17:g.17506255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506255T>C , CM000679.2:g.17506255T>C	GRCh38
NC_000017.10:g.17409569T>C , CM000679.1:g.17409569T>C	GRCh37
NC_000017.9:g.17350294T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.625A>G MANE Select	ENSP00000255389.5:p.Thr209Ala
ENST00000255389.9:c.625A>G	ENSP00000255389.5:p.Thr209Ala
ENST00000395781.6:c.656A>G	ENSP00000379127.2:p.His219Arg
ENST00000395782.5:c.514A>G	ENSP00000379128.1:p.Thr172Ala
ENST00000395783.5:c.514A>G	ENSP00000379129.1:p.Thr172Ala
ENST00000435340.6:c.593A>G	ENSP00000391288.2:p.His198Arg
ENST00000477595.5:n.119A>G
ENST00000484838.6:n.489A>G
ENST00000490392.5:n.359A>G
ENST00000580147.5:c.*123A>G	ENSP00000463112.1:n.*123A>G
ENST00000582268.5:n.69A>G
NM_001267551.1:c.559A>G	NP_001254480.1:p.Thr187Ala
NM_001267552.1:c.656A>G	NP_001254481.1:p.His219Arg
NM_007169.2:c.514A>G	NP_009100.2:p.Thr172Ala
NM_148172.2:c.625A>G	NP_680477.1:p.Thr209Ala
NM_148173.1:c.514A>G	NP_680478.1:p.Thr172Ala
XM_006721418.2:c.562A>G	XP_006721481.2:p.Thr188Ala
XM_006721418.4:c.562A>G	XP_006721481.2:p.Thr188Ala
XM_017024016.1:c.292A>G	XP_016879505.1:p.Thr98Ala
XM_024450532.1:c.514A>G	XP_024306300.1:p.Thr172Ala
NM_148172.3:c.625A>G MANE Select	NP_680477.1:p.Thr209Ala
NM_001267551.2:c.559A>G	NP_001254480.1:p.Thr187Ala
NM_001267552.2:c.656A>G	NP_001254481.1:p.His219Arg
NM_007169.3:c.514A>G	NP_009100.2:p.Thr172Ala
NM_148173.2:c.514A>G	NP_680478.1:p.Thr172Ala