Canonical Allele Identifier: CA398543054

Gene: PEMT

Linked Data

• dbSNP Id: rs1157801889
• gnomAD v2: 17-17409564-G-T
• gnomAD v3: 17-17506250-G-T
• gnomAD v4: 17-17506250-G-T
• MyVariant Identifiers: chr17:g.17409564G>T (hg19) ; chr17:g.17506250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506250G>T , CM000679.2:g.17506250G>T	GRCh38
NC_000017.10:g.17409564G>T , CM000679.1:g.17409564G>T	GRCh37
NC_000017.9:g.17350289G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.630C>A MANE Select	ENSP00000255389.5:p.Tyr210Ter
ENST00000255389.9:c.630C>A	ENSP00000255389.5:p.Tyr210Ter
ENST00000395781.6:c.661C>A	ENSP00000379127.2:p.His221Asn
ENST00000395782.5:c.519C>A	ENSP00000379128.1:p.Tyr173Ter
ENST00000395783.5:c.519C>A	ENSP00000379129.1:p.Tyr173Ter
ENST00000435340.6:c.598C>A	ENSP00000391288.2:p.His200Asn
ENST00000477595.5:n.124C>A
ENST00000484838.6:n.494C>A
ENST00000490392.5:n.364C>A
ENST00000580147.5:c.*128C>A	ENSP00000463112.1:n.*128C>A
ENST00000582268.5:n.74C>A
NM_001267551.1:c.564C>A	NP_001254480.1:p.Tyr188Ter
NM_001267552.1:c.661C>A	NP_001254481.1:p.His221Asn
NM_007169.2:c.519C>A	NP_009100.2:p.Tyr173Ter
NM_148172.2:c.630C>A	NP_680477.1:p.Tyr210Ter
NM_148173.1:c.519C>A	NP_680478.1:p.Tyr173Ter
XM_006721418.2:c.567C>A	XP_006721481.2:p.Tyr189Ter
XM_006721418.4:c.567C>A	XP_006721481.2:p.Tyr189Ter
XM_017024016.1:c.297C>A	XP_016879505.1:p.Tyr99Ter
XM_024450532.1:c.519C>A	XP_024306300.1:p.Tyr173Ter
NM_148172.3:c.630C>A MANE Select	NP_680477.1:p.Tyr210Ter
NM_001267551.2:c.564C>A	NP_001254480.1:p.Tyr188Ter
NM_001267552.2:c.661C>A	NP_001254481.1:p.His221Asn
NM_007169.3:c.519C>A	NP_009100.2:p.Tyr173Ter
NM_148173.2:c.519C>A	NP_680478.1:p.Tyr173Ter