Canonical Allele Identifier: CA4827851
Gene: SPAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242015
dbSNP Id: rs142031266

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100240955C>T , CM000670.2:g.100240955C>T GRCh38
NC_000008.10:g.101253183C>T , CM000670.1:g.101253183C>T GRCh37
NC_000008.9:g.101322359C>T NCBI36
NG_033834.1:g.87921C>T
NG_033834.2:g.87921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388798.7:c.2714C>T MANE Select ENSP00000373450.3:p.Ser905Leu
ENST00000251809.4:c.2714C>T ENSP00000251809.3:p.Ser905Leu
ENST00000388798.6:c.2714C>T ENSP00000373450.2:p.Ser905Leu
ENST00000519409.1:n.213+184C>T
NM_003114.4:c.2714C>T NP_003105.2:p.Ser905Leu
NM_172218.2:c.2714C>T NP_757367.1:p.Ser905Leu
XM_011517240.1:c.2561C>T XP_011515542.1:p.Ser854Leu
XM_011517241.1:c.2549C>T XP_011515543.1:p.Ser850Leu
XM_011517242.1:c.2714C>T XP_011515544.1:p.Ser905Leu
XM_011517243.1:c.2714C>T XP_011515545.1:p.Ser905Leu
XR_928449.1:n.88+897G>A
XM_011517240.2:c.2561C>T XP_011515542.1:p.Ser854Leu
XM_011517241.2:c.2549C>T XP_011515543.1:p.Ser850Leu
XM_011517242.2:c.2714C>T XP_011515544.1:p.Ser905Leu
XM_011517243.2:c.2714C>T XP_011515545.1:p.Ser905Leu
XM_017013754.1:c.2819C>T XP_016869243.1:p.Ser940Leu
XM_017013755.1:c.2378C>T XP_016869244.1:p.Ser793Leu
XR_001745580.1:n.2673C>T
XR_001745581.1:n.2506C>T
XR_001745582.1:n.2700C>T
XR_928449.3:n.86+897G>A
NM_001374321.1:c.2714C>T NP_001361250.1:p.Ser905Leu
NM_003114.5:c.2714C>T MANE Select NP_003105.2:p.Ser905Leu
NM_172218.3:c.2714C>T NP_757367.1:p.Ser905Leu