Canonical Allele Identifier: CA394451198

Gene: PKMYT1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2974124C>T , CM000678.2:g.2974124C>T	GRCh38
NC_000016.9:g.3024125C>T , CM000678.1:g.3024125C>T	GRCh37
NC_000016.8:g.2964126C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004203.5:c.1186G>A MANE Select	NP_004194.3:p.Gly396Arg
ENST00000262300.13:c.1186G>A MANE Select	ENSP00000262300.8:p.Gly396Arg
NM_001258450.1:c.979G>A	NP_001245379.1:p.Gly327Arg
NM_001258450.2:c.979G>A	NP_001245379.1:p.Gly327Arg
NM_001258451.1:c.1159G>A	NP_001245380.1:p.Gly387Arg
NM_001258451.2:c.1159G>A	NP_001245380.1:p.Gly387Arg
NM_004203.4:c.1186G>A	NP_004194.3:p.Gly396Arg
NM_182687.2:c.1186G>A	NP_872629.1:p.Gly396Arg
NM_182687.3:c.1186G>A	NP_872629.1:p.Gly396Arg
ENST00000262300.12:c.1186G>A	ENSP00000262300.8:p.Gly396Arg
ENST00000382240.9:c.1159G>A	ENSP00000371675.5:p.Gly387Arg
ENST00000431515.6:c.1186G>A	ENSP00000392855.2:p.Gly396Arg
ENST00000440027.6:c.1186G>A	ENSP00000397739.2:p.Gly396Arg
ENST00000573944.5:c.1159G>A	ENSP00000459123.1:p.Gly387Arg
ENST00000574385.5:c.1159G>A	ENSP00000458943.1:p.Gly387Arg
ENST00000574730.5:c.979G>A	ENSP00000460868.1:p.Gly327Arg
ENST00000575040.1:c.58G>A
ENST00000575981.1:n.453G>A
XM_011522734.1:c.1186G>A	XP_011521036.1:p.Gly396Arg
XM_011522734.3:c.1186G>A	XP_011521036.1:p.Gly396Arg
XM_011522735.1:c.1159G>A	XP_011521037.1:p.Gly387Arg
XM_011522735.3:c.1159G>A	XP_011521037.1:p.Gly387Arg
XM_011522736.1:c.1159G>A	XP_011521038.1:p.Gly387Arg
XM_011522736.3:c.1159G>A	XP_011521038.1:p.Gly387Arg
XM_024450490.1:c.1186G>A	XP_024306258.1:p.Gly396Arg