Canonical Allele Identifier: CA371800803
Community Standard Title: NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter)
Gene: SPAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100177916C>G , CM000670.2:g.100177916C>G GRCh38
NC_000008.10:g.101190144C>G , CM000670.1:g.101190144C>G GRCh37
NC_000008.9:g.101259320C>G NCBI36
NG_033834.1:g.24882C>G
NG_033834.2:g.24882C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003114.5:c.401C>G MANE Select NP_003105.2:p.Ser134Ter
ENST00000388798.7:c.401C>G MANE Select ENSP00000373450.3:p.Ser134Ter
NM_001374321.1:c.401C>G NP_001361250.1:p.Ser134Ter
NM_003114.4:c.401C>G NP_003105.2:p.Ser134Ter
NM_172218.2:c.401C>G NP_757367.1:p.Ser134Ter
NM_172218.3:c.401C>G NP_757367.1:p.Ser134Ter
ENST00000251809.4:c.401C>G ENSP00000251809.3:p.Ser134Ter
ENST00000388798.6:c.401C>G ENSP00000373450.2:p.Ser134Ter
ENST00000520508.5:c.401C>G ENSP00000428070.1:p.Ser134Ter
ENST00000520643.5:c.401C>G ENSP00000427716.1:p.Ser134Ter
XM_011517240.1:c.401C>G XP_011515542.1:p.Ser134Ter
XM_011517240.2:c.401C>G XP_011515542.1:p.Ser134Ter
XM_011517241.1:c.401C>G XP_011515543.1:p.Ser134Ter
XM_011517241.2:c.401C>G XP_011515543.1:p.Ser134Ter
XM_011517242.1:c.401C>G XP_011515544.1:p.Ser134Ter
XM_011517242.2:c.401C>G XP_011515544.1:p.Ser134Ter
XM_011517243.1:c.401C>G XP_011515545.1:p.Ser134Ter
XM_011517243.2:c.401C>G XP_011515545.1:p.Ser134Ter
XM_011517244.1:c.401C>G XP_011515546.1:p.Ser134Ter
XM_011517245.1:c.401C>G XP_011515547.1:p.Ser134Ter
XM_011517245.2:c.401C>G XP_011515547.1:p.Ser134Ter
XM_017013754.1:c.506C>G XP_016869243.1:p.Ser169Ter
XM_017013755.1:c.65C>G XP_016869244.1:p.Ser22Ter
XR_001745580.1:n.487C>G
XR_001745581.1:n.487C>G
XR_001745582.1:n.487C>G
XR_001745583.1:n.487C>G