Canonical Allele Identifier: CA8417710

Gene: PEMT

Linked Data

• dbSNP Id: rs754264432
• ExAC: 17:17409561 T / C
• gnomAD v2: 17-17409561-T-C
• gnomAD v4: 17-17506247-T-C
• MyVariant Identifiers: chr17:g.17409561T>C (hg19) ; chr17:g.17506247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506247T>C , CM000679.2:g.17506247T>C	GRCh38
NC_000017.10:g.17409561T>C , CM000679.1:g.17409561T>C	GRCh37
NC_000017.9:g.17350286T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.633A>G MANE Select	ENSP00000255389.5:p.Ile211Met
ENST00000255389.9:c.633A>G	ENSP00000255389.5:p.Ile211Met
ENST00000395781.6:c.664A>G	ENSP00000379127.2:p.Ser222Gly
ENST00000395782.5:c.522A>G	ENSP00000379128.1:p.Ile174Met
ENST00000395783.5:c.522A>G	ENSP00000379129.1:p.Ile174Met
ENST00000435340.6:c.601A>G	ENSP00000391288.2:p.Ser201Gly
ENST00000477595.5:n.127A>G
ENST00000484838.6:n.497A>G
ENST00000490392.5:n.367A>G
ENST00000580147.5:c.*131A>G	ENSP00000463112.1:n.*131A>G
ENST00000582268.5:n.77A>G
NM_001267551.1:c.567A>G	NP_001254480.1:p.Ile189Met
NM_001267552.1:c.664A>G	NP_001254481.1:p.Ser222Gly
NM_007169.2:c.522A>G	NP_009100.2:p.Ile174Met
NM_148172.2:c.633A>G	NP_680477.1:p.Ile211Met
NM_148173.1:c.522A>G	NP_680478.1:p.Ile174Met
XM_006721418.2:c.570A>G	XP_006721481.2:p.Ile190Met
XM_006721418.4:c.570A>G	XP_006721481.2:p.Ile190Met
XM_017024016.1:c.300A>G	XP_016879505.1:p.Ile100Met
XM_024450532.1:c.522A>G	XP_024306300.1:p.Ile174Met
NM_148172.3:c.633A>G MANE Select	NP_680477.1:p.Ile211Met
NM_001267551.2:c.567A>G	NP_001254480.1:p.Ile189Met
NM_001267552.2:c.664A>G	NP_001254481.1:p.Ser222Gly
NM_007169.3:c.522A>G	NP_009100.2:p.Ile174Met
NM_148173.2:c.522A>G	NP_680478.1:p.Ile174Met