Canonical Allele Identifier: CA371819887
Community Standard Title: NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp)
Gene: SPAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100165963G>A , CM000670.2:g.100165963G>A GRCh38
NC_000008.10:g.101178191G>A , CM000670.1:g.101178191G>A GRCh37
NC_000008.9:g.101247367G>A NCBI36
NG_033834.1:g.12929G>A
NG_033834.2:g.12929G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003114.5:c.290G>A MANE Select NP_003105.2:p.Gly97Asp
ENST00000388798.7:c.290G>A MANE Select ENSP00000373450.3:p.Gly97Asp
NM_001374321.1:c.290G>A NP_001361250.1:p.Gly97Asp
NM_003114.4:c.290G>A NP_003105.2:p.Gly97Asp
NM_172218.2:c.290G>A NP_757367.1:p.Gly97Asp
NM_172218.3:c.290G>A NP_757367.1:p.Gly97Asp
ENST00000251809.4:c.290G>A ENSP00000251809.3:p.Gly97Asp
ENST00000388798.6:c.290G>A ENSP00000373450.2:p.Gly97Asp
ENST00000520508.5:c.290G>A ENSP00000428070.1:p.Gly97Asp
ENST00000520643.5:c.290G>A ENSP00000427716.1:p.Gly97Asp
XM_011517240.1:c.290G>A XP_011515542.1:p.Gly97Asp
XM_011517240.2:c.290G>A XP_011515542.1:p.Gly97Asp
XM_011517241.1:c.290G>A XP_011515543.1:p.Gly97Asp
XM_011517241.2:c.290G>A XP_011515543.1:p.Gly97Asp
XM_011517242.1:c.290G>A XP_011515544.1:p.Gly97Asp
XM_011517242.2:c.290G>A XP_011515544.1:p.Gly97Asp
XM_011517243.1:c.290G>A XP_011515545.1:p.Gly97Asp
XM_011517243.2:c.290G>A XP_011515545.1:p.Gly97Asp
XM_011517244.1:c.290G>A XP_011515546.1:p.Gly97Asp
XM_011517245.1:c.290G>A XP_011515547.1:p.Gly97Asp
XM_011517245.2:c.290G>A XP_011515547.1:p.Gly97Asp
XM_017013754.1:c.395G>A XP_016869243.1:p.Gly132Asp
XM_017013755.1:c.-47G>A XP_016869244.1:n.-47G>A
XR_001745580.1:n.376G>A
XR_001745581.1:n.376G>A
XR_001745582.1:n.376G>A
XR_001745583.1:n.376G>A