Canonical Allele Identifier: CA16612448
Gene: SPAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410992
ClinVar RCV Id: RCV000468769
dbSNP Id: rs1060503104
gnomAD v2: 8-101174649-G-A
gnomAD v3: 8-100162421-G-A
gnomAD v4: 8-100162421-G-A
MyVariant Identifiers: chr8:g.101174649G>A (hg19) chr8:g.100162421G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100162421G>A , CM000670.2:g.100162421G>A GRCh38
NC_000008.10:g.101174649G>A , CM000670.1:g.101174649G>A GRCh37
NC_000008.9:g.101243825G>A NCBI36
NG_033834.1:g.9387G>A
NG_033834.2:g.9387G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388798.7:c.140+1G>A MANE Select ENSP00000373450.3:n.140+1G>A
ENST00000251809.4:c.140+1G>A ENSP00000251809.3:n.140+1G>A
ENST00000388798.6:c.140+1G>A ENSP00000373450.2:n.140+1G>A
ENST00000520508.5:c.140+1G>A ENSP00000428070.1:n.140+1G>A
ENST00000520643.5:c.140+1G>A ENSP00000427716.1:n.140+1G>A
NM_003114.4:c.140+1G>A NP_003105.2:n.140+1G>A
NM_172218.2:c.140+1G>A NP_757367.1:n.140+1G>A
XM_011517240.1:c.140+1G>A XP_011515542.1:n.140+1G>A
XM_011517241.1:c.140+1G>A XP_011515543.1:n.140+1G>A
XM_011517242.1:c.140+1G>A XP_011515544.1:n.140+1G>A
XM_011517243.1:c.140+1G>A XP_011515545.1:n.140+1G>A
XM_011517244.1:c.140+1G>A XP_011515546.1:n.140+1G>A
XM_011517245.1:c.140+1G>A XP_011515547.1:n.140+1G>A
XM_011517240.2:c.140+1G>A XP_011515542.1:n.140+1G>A
XM_011517241.2:c.140+1G>A XP_011515543.1:n.140+1G>A
XM_011517242.2:c.140+1G>A XP_011515544.1:n.140+1G>A
XM_011517243.2:c.140+1G>A XP_011515545.1:n.140+1G>A
XM_011517245.2:c.140+1G>A XP_011515547.1:n.140+1G>A
XM_017013754.1:c.246-3393G>A XP_016869243.1:n.246-3393G>A
XM_017013755.1:c.-196-3393G>A XP_016869244.1:n.-196-3393G>A
XR_001745580.1:n.226+1G>A
XR_001745581.1:n.226+1G>A
XR_001745582.1:n.226+1G>A
XR_001745583.1:n.226+1G>A
NM_001374321.1:c.140+1G>A NP_001361250.1:n.140+1G>A
NM_003114.5:c.140+1G>A MANE Select NP_003105.2:n.140+1G>A
NM_172218.3:c.140+1G>A NP_757367.1:n.140+1G>A
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