Canonical Allele Identifier: CA7937154

Gene: KNOP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19707022C>T , CM000678.2:g.19707022C>T	GRCh38
NC_000016.9:g.19718344C>T , CM000678.1:g.19718344C>T	GRCh37
NC_000016.8:g.19625845C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001012991.3:c.1265G>A MANE Select	NP_001013009.2:p.Arg422Gln
ENST00000219837.12:c.1265G>A MANE Select	ENSP00000219837.7:p.Arg422Gln
NM_001012991.2:c.1265G>A	NP_001013009.2:p.Arg422Gln
NM_001348527.1:c.1445G>A	NP_001335456.1:p.Arg482Gln
NM_001348527.2:c.1445G>A	NP_001335456.1:p.Arg482Gln
NM_001348528.1:c.1265G>A	NP_001335457.1:p.Arg422Gln
NM_001348528.2:c.1265G>A	NP_001335457.1:p.Arg422Gln
NM_001348529.1:c.1265G>A	NP_001335458.1:p.Arg422Gln
NM_001348529.2:c.1265G>A	NP_001335458.1:p.Arg422Gln
NM_001348530.1:c.1265G>A	NP_001335459.1:p.Arg422Gln
NM_001348530.2:c.1265G>A	NP_001335459.1:p.Arg422Gln
NM_001348531.1:c.1265G>A	NP_001335460.1:p.Arg422Gln
NM_001348531.2:c.1265G>A	NP_001335460.1:p.Arg422Gln
NM_001348532.1:c.1196G>A	NP_001335461.1:p.Arg399Gln
NM_001348532.2:c.1196G>A	NP_001335461.1:p.Arg399Gln
NM_001348533.1:c.1196G>A	NP_001335462.1:p.Arg399Gln
NM_001348533.2:c.1196G>A	NP_001335462.1:p.Arg399Gln
NM_001348534.1:c.1196G>A	NP_001335463.1:p.Arg399Gln
NM_001348534.2:c.1196G>A	NP_001335463.1:p.Arg399Gln
NM_001348535.1:c.1196G>A	NP_001335464.1:p.Arg399Gln
NM_001348535.2:c.1196G>A	NP_001335464.1:p.Arg399Gln
NM_001348536.1:c.1196G>A	NP_001335465.1:p.Arg399Gln
NM_001348536.2:c.1196G>A	NP_001335465.1:p.Arg399Gln
NM_001348537.1:c.1196G>A	NP_001335466.1:p.Arg399Gln
NM_001348537.2:c.1196G>A	NP_001335466.1:p.Arg399Gln
ENST00000219837.11:c.1265G>A	ENSP00000219837.7:p.Arg422Gln
ENST00000568230.5:c.302G>A	ENSP00000455015.1:p.Arg101Gln
XM_005255316.3:c.1448G>A	XP_005255373.1:p.Arg483Gln
XM_005255317.3:c.1265G>A	XP_005255374.1:p.Arg422Gln
XM_006721046.2:c.1265G>A	XP_006721109.1:p.Arg422Gln
XM_011545855.1:c.1445G>A	XP_011544157.1:p.Arg482Gln
XM_024450278.1:c.1376G>A	XP_024306046.1:p.Arg459Gln