Canonical Allele Identifier: CA396105791

Gene: SIAH1 LONP2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48361974T>C , CM000678.2:g.48361974T>C	GRCh38
NC_000016.9:g.48395885T>C , CM000678.1:g.48395885T>C	GRCh37
NC_000016.8:g.46953386T>C	NCBI36
NG_029599.1:g.28345A>G
NG_053011.1:g.122808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394725.3:c.455A>G (SIAH1) MANE Select	ENSP00000378214.2:p.His152Arg
ENST00000356721.3:c.548A>G (SIAH1)	ENSP00000349156.3:p.His183Arg
ENST00000380006.2:c.455A>G (SIAH1)	ENSP00000369343.2:p.His152Arg
ENST00000394725.2:c.455A>G (SIAH1)	ENSP00000378214.2:p.His152Arg
ENST00000565185.1:n.666T>C (LONP2)
ENST00000565867.2:c.821T>C (LONP2)
ENST00000566719.1:n.1523T>C (LONP2)
ENST00000568007.5:c.455A>G (SIAH1)	ENSP00000456421.1:p.His152Arg
NM_001006610.1:c.548A>G (SIAH1)	NP_001006611.1:p.His183Arg
NM_003031.3:c.455A>G (SIAH1)	NP_003022.3:p.His152Arg
NR_040677.1:n.1524T>C
XM_006721246.1:c.455A>G (SIAH1)	XP_006721309.1:p.His152Arg
XM_011523279.1:c.455A>G (SIAH1)	XP_011521581.1:p.His152Arg
NM_001348078.1:c.*378T>C (LONP2)	NP_001335007.1:n.*378T>C
XM_006721246.2:c.455A>G (SIAH1)	XP_006721309.1:p.His152Arg
XM_011523279.2:c.455A>G (SIAH1)	XP_011521581.1:p.His152Arg
XM_024450394.1:c.455A>G (SIAH1)	XP_024306162.1:p.His152Arg
XM_024450395.1:c.455A>G (SIAH1)	XP_024306163.1:p.His152Arg
NM_003031.4:c.455A>G (SIAH1) MANE Select	NP_003022.3:p.His152Arg
NM_001006610.2:c.548A>G (SIAH1)	NP_001006611.1:p.His183Arg
NM_001348078.2:c.*378T>C (LONP2)	NP_001335007.1:n.*378T>C