Canonical Allele Identifier: CA2576186581

Gene: PEMT

Linked Data

• gnomAD v4: 17-17506191-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17506191G>A , CM000679.2:g.17506191G>A	GRCh38
NC_000017.10:g.17409505G>A , CM000679.1:g.17409505G>A	GRCh37
NC_000017.9:g.17350230G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000255389.10:c.653+36C>T MANE Select	ENSP00000255389.5:n.653+36C>T
ENST00000255389.9:c.653+36C>T	ENSP00000255389.5:n.653+36C>T
ENST00000395781.6:c.684+36C>T	ENSP00000379127.2:n.684+36C>T
ENST00000395782.5:c.542+36C>T	ENSP00000379128.1:n.542+36C>T
ENST00000395783.5:c.542+36C>T	ENSP00000379129.1:n.542+36C>T
ENST00000435340.6:c.621+36C>T	ENSP00000391288.2:n.621+36C>T
ENST00000477595.5:n.147+36C>T
ENST00000484838.6:n.517+36C>T
ENST00000490392.5:n.387+36C>T
ENST00000580147.5:c.*151+36C>T	ENSP00000463112.1:n.*151+36C>T
ENST00000582268.5:n.97+36C>T
NM_001267551.1:c.587+36C>T	NP_001254480.1:n.587+36C>T
NM_001267552.1:c.684+36C>T	NP_001254481.1:n.684+36C>T
NM_007169.2:c.542+36C>T	NP_009100.2:n.542+36C>T
NM_148172.2:c.653+36C>T	NP_680477.1:n.653+36C>T
NM_148173.1:c.542+36C>T	NP_680478.1:n.542+36C>T
XM_006721418.2:c.590+36C>T	XP_006721481.2:n.590+36C>T
XM_006721418.4:c.590+36C>T	XP_006721481.2:n.590+36C>T
XM_017024016.1:c.320+36C>T	XP_016879505.1:n.320+36C>T
XM_024450532.1:c.542+36C>T	XP_024306300.1:n.542+36C>T
NM_148172.3:c.653+36C>T MANE Select	NP_680477.1:n.653+36C>T
NM_001267551.2:c.587+36C>T	NP_001254480.1:n.587+36C>T
NM_001267552.2:c.684+36C>T	NP_001254481.1:n.684+36C>T
NM_007169.3:c.542+36C>T	NP_009100.2:n.542+36C>T
NM_148173.2:c.542+36C>T	NP_680478.1:n.542+36C>T