Canonical Allele Identifier: CA2590240574

Gene: SPIRE1

Linked Data

• dbSNP Id: rs2034209801
• gnomAD v3: 18-12516815-T-G
• gnomAD v4: 18-12516815-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12516815T>G , CM000680.2:g.12516815T>G	GRCh38
NC_000018.9:g.12516814T>G , CM000680.1:g.12516814T>G	GRCh37
NC_000018.8:g.12506814T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409402.9:c.730-4284A>C MANE Select	ENSP00000387266.3:n.730-4284A>C
ENST00000309836.9:c.139-4284A>C	ENSP00000309661.5:n.139-4284A>C
ENST00000409402.8:c.730-4284A>C	ENSP00000387266.3:n.730-4284A>C
ENST00000410092.7:c.730-4284A>C	ENSP00000387226.3:n.730-4284A>C
ENST00000440472.6:c.253-4284A>C	ENSP00000404752.1:n.253-4284A>C
ENST00000449797.5:c.370-4284A>C	ENSP00000401392.1:n.370-4284A>C
ENST00000453447.6:c.370-4284A>C	ENSP00000407050.1:n.370-4284A>C
ENST00000497844.6:c.424-4284A>C	ENSP00000467103.1:n.424-4284A>C
ENST00000626255.2:c.370-4284A>C	ENSP00000486927.1:n.370-4284A>C
NM_001128626.1:c.730-4284A>C	NP_001122098.1:n.730-4284A>C
NM_001128627.1:c.370-4284A>C	NP_001122099.1:n.370-4284A>C
NM_020148.2:c.730-4284A>C	NP_064533.3:n.730-4284A>C
XM_005258122.3:c.730-4284A>C	XP_005258179.1:n.730-4284A>C
XM_011525700.1:c.730-4284A>C	XP_011524002.1:n.730-4284A>C
XM_011525701.1:c.730-4284A>C	XP_011524003.1:n.730-4284A>C
XM_011525702.1:c.370-4284A>C	XP_011524004.1:n.370-4284A>C
XM_011525703.1:c.730-4284A>C	XP_011524005.1:n.730-4284A>C
XM_005258122.4:c.730-4284A>C	XP_005258179.1:n.730-4284A>C
XM_011525703.2:c.730-4284A>C	XP_011524005.1:n.730-4284A>C
XM_024451224.1:c.370-4284A>C	XP_024306992.1:n.370-4284A>C
XM_024451225.1:c.406-4284A>C	XP_024306993.1:n.406-4284A>C
NM_001128626.2:c.730-4284A>C MANE Select	NP_001122098.1:n.730-4284A>C
NM_020148.3:c.730-4284A>C	NP_064533.3:n.730-4284A>C
NM_001394323.1:c.406-4284A>C	NP_001381252.1:n.406-4284A>C
NM_001394324.1:c.139-4284A>C	NP_001381253.1:n.139-4284A>C
NM_001394325.1:c.253-4284A>C	NP_001381254.1:n.253-4284A>C