Canonical Allele Identifier: CA1630835194
Community Standard Title: NM_003114.5(SPAG1):c.2330T= (p.Met777=)
Gene: SPAG1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003114.5:c.2330T= MANE Select NP_003105.2:p.Met777=
ENST00000388798.7:c.2330T= MANE Select ENSP00000373450.3:p.Met777=
NM_001374321.1:c.2330T= NP_001361250.1:p.Met777=
NM_003114.4:c.2330T= NP_003105.2:p.Met777=
NM_172218.2:c.2330T= NP_757367.1:p.Met777=
NM_172218.3:c.2330T= NP_757367.1:p.Met777=
ENST00000251809.4:c.2330T= ENSP00000251809.3:p.Met777=
ENST00000388798.6:c.2330T= ENSP00000373450.2:p.Met777=
ENST00000519424.1:n.582T=
XM_011517240.1:c.2177T= XP_011515542.1:p.Met726=
XM_011517240.2:c.2177T= XP_011515542.1:p.Met726=
XM_011517241.1:c.2165T= XP_011515543.1:p.Met722=
XM_011517241.2:c.2165T= XP_011515543.1:p.Met722=
XM_011517242.1:c.2330T= XP_011515544.1:p.Met777=
XM_011517242.2:c.2330T= XP_011515544.1:p.Met777=
XM_011517243.1:c.2330T= XP_011515545.1:p.Met777=
XM_011517243.2:c.2330T= XP_011515545.1:p.Met777=
XM_017013754.1:c.2435T= XP_016869243.1:p.Met812=
XM_017013755.1:c.1994T= XP_016869244.1:p.Met665=
XR_001745580.1:n.2289T=
XR_001745581.1:n.2122T=
XR_001745582.1:n.2316T=
XR_928449.1:n.88+1400A=
XR_928449.3:n.86+1400A=