Canonical Allele Identifier: CA398543072

Gene: PEMT

Linked Data

• dbSNP Id: rs1421140122
• gnomAD v2: 17-17409571-A-C
• MyVariant Identifiers: chr17:g.17409571A>C (hg19) ; chr17:g.17506257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506257A>C , CM000679.2:g.17506257A>C	GRCh38
NC_000017.10:g.17409571A>C , CM000679.1:g.17409571A>C	GRCh37
NC_000017.9:g.17350296A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.623T>G MANE Select	ENSP00000255389.5:p.Leu208Arg
ENST00000255389.9:c.623T>G	ENSP00000255389.5:p.Leu208Arg
ENST00000395781.6:c.654T>G	ENSP00000379127.2:p.Pro218=
ENST00000395782.5:c.512T>G	ENSP00000379128.1:p.Leu171Arg
ENST00000395783.5:c.512T>G	ENSP00000379129.1:p.Leu171Arg
ENST00000435340.6:c.591T>G	ENSP00000391288.2:p.Pro197=
ENST00000477595.5:n.117T>G
ENST00000484838.6:n.487T>G
ENST00000490392.5:n.357T>G
ENST00000580147.5:c.*121T>G	ENSP00000463112.1:n.*121T>G
ENST00000582268.5:n.67T>G
NM_001267551.1:c.557T>G	NP_001254480.1:p.Leu186Arg
NM_001267552.1:c.654T>G	NP_001254481.1:p.Pro218=
NM_007169.2:c.512T>G	NP_009100.2:p.Leu171Arg
NM_148172.2:c.623T>G	NP_680477.1:p.Leu208Arg
NM_148173.1:c.512T>G	NP_680478.1:p.Leu171Arg
XM_006721418.2:c.560T>G	XP_006721481.2:p.Leu187Arg
XM_006721418.4:c.560T>G	XP_006721481.2:p.Leu187Arg
XM_017024016.1:c.290T>G	XP_016879505.1:p.Leu97Arg
XM_024450532.1:c.512T>G	XP_024306300.1:p.Leu171Arg
NM_148172.3:c.623T>G MANE Select	NP_680477.1:p.Leu208Arg
NM_001267551.2:c.557T>G	NP_001254480.1:p.Leu186Arg
NM_001267552.2:c.654T>G	NP_001254481.1:p.Pro218=
NM_007169.3:c.512T>G	NP_009100.2:p.Leu171Arg
NM_148173.2:c.512T>G	NP_680478.1:p.Leu171Arg