Canonical Allele Identifier: CA398543045

Gene: PEMT

Linked Data

• MyVariant Identifiers: chr17:g.17409561T>G (hg19) ; chr17:g.17506247T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.633A>C MANE Select	ENSP00000255389.5:p.Ile211=
ENST00000255389.9:c.633A>C	ENSP00000255389.5:p.Ile211=
ENST00000395781.6:c.664A>C	ENSP00000379127.2:p.Ser222Arg
ENST00000395782.5:c.522A>C	ENSP00000379128.1:p.Ile174=
ENST00000395783.5:c.522A>C	ENSP00000379129.1:p.Ile174=
ENST00000435340.6:c.601A>C	ENSP00000391288.2:p.Ser201Arg
ENST00000477595.5:n.127A>C
ENST00000484838.6:n.497A>C
ENST00000490392.5:n.367A>C
ENST00000580147.5:c.*131A>C	ENSP00000463112.1:n.*131A>C
ENST00000582268.5:n.77A>C
NM_001267551.1:c.567A>C	NP_001254480.1:p.Ile189=
NM_001267552.1:c.664A>C	NP_001254481.1:p.Ser222Arg
NM_007169.2:c.522A>C	NP_009100.2:p.Ile174=
NM_148172.2:c.633A>C	NP_680477.1:p.Ile211=
NM_148173.1:c.522A>C	NP_680478.1:p.Ile174=
XM_006721418.2:c.570A>C	XP_006721481.2:p.Ile190=
XM_006721418.4:c.570A>C	XP_006721481.2:p.Ile190=
XM_017024016.1:c.300A>C	XP_016879505.1:p.Ile100=
XM_024450532.1:c.522A>C	XP_024306300.1:p.Ile174=
NM_148172.3:c.633A>C MANE Select	NP_680477.1:p.Ile211=
NM_001267551.2:c.567A>C	NP_001254480.1:p.Ile189=
NM_001267552.2:c.664A>C	NP_001254481.1:p.Ser222Arg
NM_007169.3:c.522A>C	NP_009100.2:p.Ile174=
NM_148173.2:c.522A>C	NP_680478.1:p.Ile174=