Canonical Allele Identifier: CA2844611042
Community Standard Title: NM_003114.5(SPAG1):c.2014C= (p.Gln672=)
Gene: SPAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100233436C= , CM000670.2:g.100233436C= GRCh38
NC_000008.10:g.101245664C= , CM000670.1:g.101245664C= GRCh37
NC_000008.9:g.101314840C= NCBI36
NG_033834.1:g.80402C=
NG_033834.2:g.80402C=

Transcript Alleles

HGVS Amino-acid Change
NM_003114.5:c.2014C= MANE Select NP_003105.2:p.Gln672=
ENST00000388798.7:c.2014C= MANE Select ENSP00000373450.3:p.Gln672=
NM_001374321.1:c.2014C= NP_001361250.1:p.Gln672=
NM_003114.4:c.2014C= NP_003105.2:p.Gln672=
NM_172218.2:c.2014C= NP_757367.1:p.Gln672=
NM_172218.3:c.2014C= NP_757367.1:p.Gln672=
ENST00000251809.4:c.2014C= ENSP00000251809.3:p.Gln672=
ENST00000388798.6:c.2014C= ENSP00000373450.2:p.Gln672=
ENST00000519424.1:n.266C=
XM_011517240.1:c.1861C= XP_011515542.1:p.Gln621=
XM_011517240.2:c.1861C= XP_011515542.1:p.Gln621=
XM_011517241.1:c.2014C= XP_011515543.1:p.Gln672=
XM_011517241.2:c.2014C= XP_011515543.1:p.Gln672=
XM_011517242.1:c.2014C= XP_011515544.1:p.Gln672=
XM_011517242.2:c.2014C= XP_011515544.1:p.Gln672=
XM_011517243.1:c.2014C= XP_011515545.1:p.Gln672=
XM_011517243.2:c.2014C= XP_011515545.1:p.Gln672=
XM_011517244.1:c.1988+2148C= XP_011515546.1:n.1988+2148C=
XM_017013754.1:c.2119C= XP_016869243.1:p.Gln707=
XM_017013755.1:c.1678C= XP_016869244.1:p.Gln560=
XR_001745580.1:n.2074+2148C=
XR_001745581.1:n.1907+2148C=
XR_001745582.1:n.2000C=