Canonical Allele Identifier: CA398543043

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506246-C-A
• MyVariant Identifiers: chr17:g.17409560C>A (hg19) ; chr17:g.17506246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506246C>A , CM000679.2:g.17506246C>A	GRCh38
NC_000017.10:g.17409560C>A , CM000679.1:g.17409560C>A	GRCh37
NC_000017.9:g.17350285C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.634G>T MANE Select	ENSP00000255389.5:p.Val212Leu
ENST00000255389.9:c.634G>T	ENSP00000255389.5:p.Val212Leu
ENST00000395781.6:c.665G>T	ENSP00000379127.2:p.Ser222Ile
ENST00000395782.5:c.523G>T	ENSP00000379128.1:p.Val175Leu
ENST00000395783.5:c.523G>T	ENSP00000379129.1:p.Val175Leu
ENST00000435340.6:c.602G>T	ENSP00000391288.2:p.Ser201Ile
ENST00000477595.5:n.128G>T
ENST00000484838.6:n.498G>T
ENST00000490392.5:n.368G>T
ENST00000580147.5:c.*132G>T	ENSP00000463112.1:n.*132G>T
ENST00000582268.5:n.78G>T
NM_001267551.1:c.568G>T	NP_001254480.1:p.Val190Leu
NM_001267552.1:c.665G>T	NP_001254481.1:p.Ser222Ile
NM_007169.2:c.523G>T	NP_009100.2:p.Val175Leu
NM_148172.2:c.634G>T	NP_680477.1:p.Val212Leu
NM_148173.1:c.523G>T	NP_680478.1:p.Val175Leu
XM_006721418.2:c.571G>T	XP_006721481.2:p.Val191Leu
XM_006721418.4:c.571G>T	XP_006721481.2:p.Val191Leu
XM_017024016.1:c.301G>T	XP_016879505.1:p.Val101Leu
XM_024450532.1:c.523G>T	XP_024306300.1:p.Val175Leu
NM_148172.3:c.634G>T MANE Select	NP_680477.1:p.Val212Leu
NM_001267551.2:c.568G>T	NP_001254480.1:p.Val190Leu
NM_001267552.2:c.665G>T	NP_001254481.1:p.Ser222Ile
NM_007169.3:c.523G>T	NP_009100.2:p.Val175Leu
NM_148173.2:c.523G>T	NP_680478.1:p.Val175Leu