Canonical Allele Identifier: CA4827536

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100220304A>G , CM000670.2:g.100220304A>G	GRCh38
NC_000008.10:g.101232532A>G , CM000670.1:g.101232532A>G	GRCh37
NC_000008.9:g.101301708A>G	NCBI36
NG_033834.1:g.67270A>G
NG_033834.2:g.67270A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.1561A>G MANE Select	NP_003105.2:p.Met521Val
ENST00000388798.7:c.1561A>G MANE Select	ENSP00000373450.3:p.Met521Val
NM_001374321.1:c.1561A>G	NP_001361250.1:p.Met521Val
NM_003114.4:c.1561A>G	NP_003105.2:p.Met521Val
NM_172218.2:c.1561A>G	NP_757367.1:p.Met521Val
NM_172218.3:c.1561A>G	NP_757367.1:p.Met521Val
ENST00000251809.4:c.1561A>G	ENSP00000251809.3:p.Met521Val
ENST00000388798.6:c.1561A>G	ENSP00000373450.2:p.Met521Val
ENST00000523302.1:n.343-4869A>G
XM_011517240.1:c.1536-4869A>G	XP_011515542.1:n.1536-4869A>G
XM_011517240.2:c.1536-4869A>G	XP_011515542.1:n.1536-4869A>G
XM_011517241.1:c.1561A>G	XP_011515543.1:p.Met521Val
XM_011517241.2:c.1561A>G	XP_011515543.1:p.Met521Val
XM_011517242.1:c.1561A>G	XP_011515544.1:p.Met521Val
XM_011517242.2:c.1561A>G	XP_011515544.1:p.Met521Val
XM_011517243.1:c.1561A>G	XP_011515545.1:p.Met521Val
XM_011517243.2:c.1561A>G	XP_011515545.1:p.Met521Val
XM_011517244.1:c.1561A>G	XP_011515546.1:p.Met521Val
XM_011517245.1:c.1461A>G	XP_011515547.1:p.Leu487=
XM_011517245.2:c.1461A>G	XP_011515547.1:p.Leu487=
XM_017013754.1:c.1666A>G	XP_016869243.1:p.Met556Val
XM_017013755.1:c.1225A>G	XP_016869244.1:p.Met409Val
XR_001745580.1:n.1647A>G
XR_001745581.1:n.1647A>G
XR_001745582.1:n.1547A>G
XR_001745583.1:n.1522-4869A>G
XR_001746012.1:n.762-1089T>C
XR_001746013.1:n.952-1089T>C
XR_928451.1:n.947-1089T>C