Canonical Allele Identifier: CA182386332

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100220559T>A , CM000670.2:g.100220559T>A	GRCh38
NC_000008.10:g.101232787T>A , CM000670.1:g.101232787T>A	GRCh37
NC_000008.9:g.101301963T>A	NCBI36
NG_033834.1:g.67525T>A
NG_033834.2:g.67525T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.1688+128T>A MANE Select	NP_003105.2:n.1688+128T>A
ENST00000388798.7:c.1688+128T>A MANE Select	ENSP00000373450.3:n.1688+128T>A
NM_001374321.1:c.1688+128T>A	NP_001361250.1:n.1688+128T>A
NM_003114.4:c.1688+128T>A	NP_003105.2:n.1688+128T>A
NM_172218.2:c.1688+128T>A	NP_757367.1:n.1688+128T>A
NM_172218.3:c.1688+128T>A	NP_757367.1:n.1688+128T>A
ENST00000251809.4:c.1688+128T>A	ENSP00000251809.3:n.1688+128T>A
ENST00000388798.6:c.1688+128T>A	ENSP00000373450.2:n.1688+128T>A
ENST00000523302.1:n.343-4614T>A
XM_011517240.1:c.1536-4614T>A	XP_011515542.1:n.1536-4614T>A
XM_011517240.2:c.1536-4614T>A	XP_011515542.1:n.1536-4614T>A
XM_011517241.1:c.1688+128T>A	XP_011515543.1:n.1688+128T>A
XM_011517241.2:c.1688+128T>A	XP_011515543.1:n.1688+128T>A
XM_011517242.1:c.1688+128T>A	XP_011515544.1:n.1688+128T>A
XM_011517242.2:c.1688+128T>A	XP_011515544.1:n.1688+128T>A
XM_011517243.1:c.1688+128T>A	XP_011515545.1:n.1688+128T>A
XM_011517243.2:c.1688+128T>A	XP_011515545.1:n.1688+128T>A
XM_011517244.1:c.1688+128T>A	XP_011515546.1:n.1688+128T>A
XM_011517245.2:c.*252T>A	XP_011515547.1:n.*252T>A
XM_017013754.1:c.1793+128T>A	XP_016869243.1:n.1793+128T>A
XM_017013755.1:c.1352+128T>A	XP_016869244.1:n.1352+128T>A
XR_001745580.1:n.1774+128T>A
XR_001745581.1:n.1774+128T>A
XR_001745582.1:n.1674+128T>A
XR_001745583.1:n.1522-4614T>A
XR_001746012.1:n.761+1295A>T
XR_001746013.1:n.951+1295A>T
XR_928451.1:n.946+1295A>T