Canonical Allele Identifier: CA396106769

Gene: SIAH1 LONP2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48362406G>A , CM000678.2:g.48362406G>A	GRCh38
NC_000016.9:g.48396317G>A , CM000678.1:g.48396317G>A	GRCh37
NC_000016.8:g.46953818G>A	NCBI36
NG_029599.1:g.27913C>T
NG_053011.1:g.123240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394725.3:c.23C>T (SIAH1) MANE Select	ENSP00000378214.2:p.Ala8Val
ENST00000356721.3:c.116C>T (SIAH1)	ENSP00000349156.3:p.Ala39Val
ENST00000380006.2:c.23C>T (SIAH1)	ENSP00000369343.2:p.Ala8Val
ENST00000394725.2:c.23C>T (SIAH1)	ENSP00000378214.2:p.Ala8Val
ENST00000563745.1:c.23C>T (SIAH1)	ENSP00000457415.1:p.Ala8Val
ENST00000565867.2:c.1253G>A (LONP2)
ENST00000566719.1:n.1955G>A (LONP2)
ENST00000568007.5:c.23C>T (SIAH1)	ENSP00000456421.1:p.Ala8Val
NM_001006610.1:c.116C>T (SIAH1)	NP_001006611.1:p.Ala39Val
NM_003031.3:c.23C>T (SIAH1)	NP_003022.3:p.Ala8Val
NR_040677.1:n.1956G>A
XM_006721246.1:c.23C>T (SIAH1)	XP_006721309.1:p.Ala8Val
XM_011523279.1:c.23C>T (SIAH1)	XP_011521581.1:p.Ala8Val
NM_001348078.1:c.*810G>A (LONP2)	NP_001335007.1:n.*810G>A
XM_006721246.2:c.23C>T (SIAH1)	XP_006721309.1:p.Ala8Val
XM_011523279.2:c.23C>T (SIAH1)	XP_011521581.1:p.Ala8Val
XM_024450394.1:c.23C>T (SIAH1)	XP_024306162.1:p.Ala8Val
XM_024450395.1:c.23C>T (SIAH1)	XP_024306163.1:p.Ala8Val
NM_003031.4:c.23C>T (SIAH1) MANE Select	NP_003022.3:p.Ala8Val
NM_001006610.2:c.116C>T (SIAH1)	NP_001006611.1:p.Ala39Val
NM_001348078.2:c.*810G>A (LONP2)	NP_001335007.1:n.*810G>A