Canonical Allele Identifier: CA14545707

Gene: SPIRE1

Linked Data

• dbSNP Id: rs1940973
• gnomAD v2: 18-12550747-T-C
• gnomAD v3: 18-12550748-T-C
• gnomAD v4: 18-12550748-T-C
• MyVariant Identifiers: chr18:g.12550747T>C (hg19) ; chr18:g.12550748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12550748T>C , CM000680.2:g.12550748T>C	GRCh38
NC_000018.9:g.12550747T>C , CM000680.1:g.12550747T>C	GRCh37
NC_000018.8:g.12540747T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409402.9:c.373-3844A>G MANE Select	ENSP00000387266.3:n.373-3844A>G
ENST00000309836.9:c.13-15147A>G	ENSP00000309661.5:n.13-15147A>G
ENST00000409402.8:c.373-3844A>G	ENSP00000387266.3:n.373-3844A>G
ENST00000410092.7:c.373-3844A>G	ENSP00000387226.3:n.373-3844A>G
ENST00000440472.6:c.-105-3844A>G	ENSP00000404752.1:n.-105-3844A>G
ENST00000449797.5:c.13-3844A>G	ENSP00000401392.1:n.13-3844A>G
ENST00000453447.6:c.13-3844A>G	ENSP00000407050.1:n.13-3844A>G
ENST00000462226.1:c.13-3844A>G	ENSP00000467943.1:n.13-3844A>G
ENST00000497844.6:c.67-3844A>G	ENSP00000467103.1:n.67-3844A>G
NM_001128626.1:c.373-3844A>G	NP_001122098.1:n.373-3844A>G
NM_001128627.1:c.13-3844A>G	NP_001122099.1:n.13-3844A>G
NM_020148.2:c.373-3844A>G	NP_064533.3:n.373-3844A>G
XM_005258122.3:c.373-3844A>G	XP_005258179.1:n.373-3844A>G
XM_011525700.1:c.373-3844A>G	XP_011524002.1:n.373-3844A>G
XM_011525701.1:c.373-3844A>G	XP_011524003.1:n.373-3844A>G
XM_011525702.1:c.13-3844A>G	XP_011524004.1:n.13-3844A>G
XM_011525703.1:c.373-3844A>G	XP_011524005.1:n.373-3844A>G
XM_005258122.4:c.373-3844A>G	XP_005258179.1:n.373-3844A>G
XM_011525703.2:c.373-3844A>G	XP_011524005.1:n.373-3844A>G
XM_024451224.1:c.13-3844A>G	XP_024306992.1:n.13-3844A>G
XM_024451225.1:c.49-3844A>G	XP_024306993.1:n.49-3844A>G
NM_001128626.2:c.373-3844A>G MANE Select	NP_001122098.1:n.373-3844A>G
NM_020148.3:c.373-3844A>G	NP_064533.3:n.373-3844A>G
NM_001394323.1:c.49-3844A>G	NP_001381252.1:n.49-3844A>G
NM_001394324.1:c.13-15147A>G	NP_001381253.1:n.13-15147A>G
NM_001394325.1:c.-105-3844A>G	NP_001381254.1:n.-105-3844A>G