Canonical Allele Identifier: CA4827725
Gene: SPAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 262802
ClinVar RCV Id: RCV000241788 RCV001519820 RCV002450785
dbSNP Id: rs6511
ExAC: 8:101252680 T / C
gnomAD v2: 8-101252680-T-C
gnomAD v3: 8-100240452-T-C
gnomAD v4: 8-100240452-T-C
MyVariant Identifiers: chr8:g.101252680T>C (hg19) chr8:g.100240452T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100240452T>C , CM000670.2:g.100240452T>C GRCh38
NC_000008.10:g.101252680T>C , CM000670.1:g.101252680T>C GRCh37
NC_000008.9:g.101321856T>C NCBI36
NG_033834.1:g.87418T>C
NG_033834.2:g.87418T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388798.7:c.2330T>C MANE Select ENSP00000373450.3:p.Met777Thr
ENST00000251809.4:c.2330T>C ENSP00000251809.3:p.Met777Thr
ENST00000388798.6:c.2330T>C ENSP00000373450.2:p.Met777Thr
ENST00000519424.1:n.582T>C
NM_003114.4:c.2330T>C NP_003105.2:p.Met777Thr
NM_172218.2:c.2330T>C NP_757367.1:p.Met777Thr
XM_011517240.1:c.2177T>C XP_011515542.1:p.Met726Thr
XM_011517241.1:c.2165T>C XP_011515543.1:p.Met722Thr
XM_011517242.1:c.2330T>C XP_011515544.1:p.Met777Thr
XM_011517243.1:c.2330T>C XP_011515545.1:p.Met777Thr
XR_928449.1:n.88+1400A>G
XM_011517240.2:c.2177T>C XP_011515542.1:p.Met726Thr
XM_011517241.2:c.2165T>C XP_011515543.1:p.Met722Thr
XM_011517242.2:c.2330T>C XP_011515544.1:p.Met777Thr
XM_011517243.2:c.2330T>C XP_011515545.1:p.Met777Thr
XM_017013754.1:c.2435T>C XP_016869243.1:p.Met812Thr
XM_017013755.1:c.1994T>C XP_016869244.1:p.Met665Thr
XR_001745580.1:n.2289T>C
XR_001745581.1:n.2122T>C
XR_001745582.1:n.2316T>C
XR_928449.3:n.86+1400A>G
NM_001374321.1:c.2330T>C NP_001361250.1:p.Met777Thr
NM_003114.5:c.2330T>C MANE Select NP_003105.2:p.Met777Thr
NM_172218.3:c.2330T>C NP_757367.1:p.Met777Thr
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