Canonical Allele Identifier: CA4827228

Gene: SPAG1

Linked Data

• ClinVar Variation Id: 410980
• ClinVar RCV Id: RCV000468151
• dbSNP Id: rs752479330
• ExAC: 8:101190062 A / T
• gnomAD v2: 8-101190062-A-T
• gnomAD v3: 8-100177834-A-T
• gnomAD v4: 8-100177834-A-T
• MyVariant Identifiers: chr8:g.101190062A>T (hg19) ; chr8:g.100177834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100177834A>T , CM000670.2:g.100177834A>T	GRCh38
NC_000008.10:g.101190062A>T , CM000670.1:g.101190062A>T	GRCh37
NC_000008.9:g.101259238A>T	NCBI36
NG_033834.1:g.24800A>T
NG_033834.2:g.24800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.319A>T MANE Select	ENSP00000373450.3:p.Lys107Ter
ENST00000251809.4:c.319A>T	ENSP00000251809.3:p.Lys107Ter
ENST00000388798.6:c.319A>T	ENSP00000373450.2:p.Lys107Ter
ENST00000520508.5:c.319A>T	ENSP00000428070.1:p.Lys107Ter
ENST00000520643.5:c.319A>T	ENSP00000427716.1:p.Lys107Ter
NM_003114.4:c.319A>T	NP_003105.2:p.Lys107Ter
NM_172218.2:c.319A>T	NP_757367.1:p.Lys107Ter
XM_011517240.1:c.319A>T	XP_011515542.1:p.Lys107Ter
XM_011517241.1:c.319A>T	XP_011515543.1:p.Lys107Ter
XM_011517242.1:c.319A>T	XP_011515544.1:p.Lys107Ter
XM_011517243.1:c.319A>T	XP_011515545.1:p.Lys107Ter
XM_011517244.1:c.319A>T	XP_011515546.1:p.Lys107Ter
XM_011517245.1:c.319A>T	XP_011515547.1:p.Lys107Ter
XM_011517240.2:c.319A>T	XP_011515542.1:p.Lys107Ter
XM_011517241.2:c.319A>T	XP_011515543.1:p.Lys107Ter
XM_011517242.2:c.319A>T	XP_011515544.1:p.Lys107Ter
XM_011517243.2:c.319A>T	XP_011515545.1:p.Lys107Ter
XM_011517245.2:c.319A>T	XP_011515547.1:p.Lys107Ter
XM_017013754.1:c.424A>T	XP_016869243.1:p.Lys142Ter
XM_017013755.1:c.-18A>T	XP_016869244.1:n.-18A>T
XR_001745580.1:n.405A>T
XR_001745581.1:n.405A>T
XR_001745582.1:n.405A>T
XR_001745583.1:n.405A>T
NM_001374321.1:c.319A>T	NP_001361250.1:p.Lys107Ter
NM_003114.5:c.319A>T MANE Select	NP_003105.2:p.Lys107Ter
NM_172218.3:c.319A>T	NP_757367.1:p.Lys107Ter