Canonical Allele Identifier: CA398543069

Gene: PEMT

Linked Data

• dbSNP Id: rs1316329449
• gnomAD v3: 17-17506256-G-A
• gnomAD v4: 17-17506256-G-A
• MyVariant Identifiers: chr17:g.17409570G>A (hg19) ; chr17:g.17506256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506256G>A , CM000679.2:g.17506256G>A	GRCh38
NC_000017.10:g.17409570G>A , CM000679.1:g.17409570G>A	GRCh37
NC_000017.9:g.17350295G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.624C>T MANE Select	ENSP00000255389.5:p.Leu208=
ENST00000255389.9:c.624C>T	ENSP00000255389.5:p.Leu208=
ENST00000395781.6:c.655C>T	ENSP00000379127.2:p.His219Tyr
ENST00000395782.5:c.513C>T	ENSP00000379128.1:p.Leu171=
ENST00000395783.5:c.513C>T	ENSP00000379129.1:p.Leu171=
ENST00000435340.6:c.592C>T	ENSP00000391288.2:p.His198Tyr
ENST00000477595.5:n.118C>T
ENST00000484838.6:n.488C>T
ENST00000490392.5:n.358C>T
ENST00000580147.5:c.*122C>T	ENSP00000463112.1:n.*122C>T
ENST00000582268.5:n.68C>T
NM_001267551.1:c.558C>T	NP_001254480.1:p.Leu186=
NM_001267552.1:c.655C>T	NP_001254481.1:p.His219Tyr
NM_007169.2:c.513C>T	NP_009100.2:p.Leu171=
NM_148172.2:c.624C>T	NP_680477.1:p.Leu208=
NM_148173.1:c.513C>T	NP_680478.1:p.Leu171=
XM_006721418.2:c.561C>T	XP_006721481.2:p.Leu187=
XM_006721418.4:c.561C>T	XP_006721481.2:p.Leu187=
XM_017024016.1:c.291C>T	XP_016879505.1:p.Leu97=
XM_024450532.1:c.513C>T	XP_024306300.1:p.Leu171=
NM_148172.3:c.624C>T MANE Select	NP_680477.1:p.Leu208=
NM_001267551.2:c.558C>T	NP_001254480.1:p.Leu186=
NM_001267552.2:c.655C>T	NP_001254481.1:p.His219Tyr
NM_007169.3:c.513C>T	NP_009100.2:p.Leu171=
NM_148173.2:c.513C>T	NP_680478.1:p.Leu171=