Canonical Allele Identifier: CA398543057

Gene: PEMT

Linked Data

• MyVariant Identifiers: chr17:g.17409565T>G (hg19) ; chr17:g.17506251T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506251T>G , CM000679.2:g.17506251T>G	GRCh38
NC_000017.10:g.17409565T>G , CM000679.1:g.17409565T>G	GRCh37
NC_000017.9:g.17350290T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.629A>C MANE Select	ENSP00000255389.5:p.Tyr210Ser
ENST00000255389.9:c.629A>C	ENSP00000255389.5:p.Tyr210Ser
ENST00000395781.6:c.660A>C	ENSP00000379127.2:p.Leu220=
ENST00000395782.5:c.518A>C	ENSP00000379128.1:p.Tyr173Ser
ENST00000395783.5:c.518A>C	ENSP00000379129.1:p.Tyr173Ser
ENST00000435340.6:c.597A>C	ENSP00000391288.2:p.Leu199=
ENST00000477595.5:n.123A>C
ENST00000484838.6:n.493A>C
ENST00000490392.5:n.363A>C
ENST00000580147.5:c.*127A>C	ENSP00000463112.1:n.*127A>C
ENST00000582268.5:n.73A>C
NM_001267551.1:c.563A>C	NP_001254480.1:p.Tyr188Ser
NM_001267552.1:c.660A>C	NP_001254481.1:p.Leu220=
NM_007169.2:c.518A>C	NP_009100.2:p.Tyr173Ser
NM_148172.2:c.629A>C	NP_680477.1:p.Tyr210Ser
NM_148173.1:c.518A>C	NP_680478.1:p.Tyr173Ser
XM_006721418.2:c.566A>C	XP_006721481.2:p.Tyr189Ser
XM_006721418.4:c.566A>C	XP_006721481.2:p.Tyr189Ser
XM_017024016.1:c.296A>C	XP_016879505.1:p.Tyr99Ser
XM_024450532.1:c.518A>C	XP_024306300.1:p.Tyr173Ser
NM_148172.3:c.629A>C MANE Select	NP_680477.1:p.Tyr210Ser
NM_001267551.2:c.563A>C	NP_001254480.1:p.Tyr188Ser
NM_001267552.2:c.660A>C	NP_001254481.1:p.Leu220=
NM_007169.3:c.518A>C	NP_009100.2:p.Tyr173Ser
NM_148173.2:c.518A>C	NP_680478.1:p.Tyr173Ser