Canonical Allele Identifier: CA4827557

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100220406C>T , CM000670.2:g.100220406C>T	GRCh38
NC_000008.10:g.101232634C>T , CM000670.1:g.101232634C>T	GRCh37
NC_000008.9:g.101301810C>T	NCBI36
NG_033834.1:g.67372C>T
NG_033834.2:g.67372C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.1663C>T MANE Select	NP_003105.2:p.Gln555Ter
ENST00000388798.7:c.1663C>T MANE Select	ENSP00000373450.3:p.Gln555Ter
NM_001374321.1:c.1663C>T	NP_001361250.1:p.Gln555Ter
NM_003114.4:c.1663C>T	NP_003105.2:p.Gln555Ter
NM_172218.2:c.1663C>T	NP_757367.1:p.Gln555Ter
NM_172218.3:c.1663C>T	NP_757367.1:p.Gln555Ter
ENST00000251809.4:c.1663C>T	ENSP00000251809.3:p.Gln555Ter
ENST00000388798.6:c.1663C>T	ENSP00000373450.2:p.Gln555Ter
ENST00000523302.1:n.343-4767C>T
XM_011517240.1:c.1536-4767C>T	XP_011515542.1:n.1536-4767C>T
XM_011517240.2:c.1536-4767C>T	XP_011515542.1:n.1536-4767C>T
XM_011517241.1:c.1663C>T	XP_011515543.1:p.Gln555Ter
XM_011517241.2:c.1663C>T	XP_011515543.1:p.Gln555Ter
XM_011517242.1:c.1663C>T	XP_011515544.1:p.Gln555Ter
XM_011517242.2:c.1663C>T	XP_011515544.1:p.Gln555Ter
XM_011517243.1:c.1663C>T	XP_011515545.1:p.Gln555Ter
XM_011517243.2:c.1663C>T	XP_011515545.1:p.Gln555Ter
XM_011517244.1:c.1663C>T	XP_011515546.1:p.Gln555Ter
XM_011517245.2:c.*99C>T	XP_011515547.1:n.*99C>T
XM_017013754.1:c.1768C>T	XP_016869243.1:p.Gln590Ter
XM_017013755.1:c.1327C>T	XP_016869244.1:p.Gln443Ter
XR_001745580.1:n.1749C>T
XR_001745581.1:n.1749C>T
XR_001745582.1:n.1649C>T
XR_001745583.1:n.1522-4767C>T
XR_001746012.1:n.762-1191G>A
XR_001746013.1:n.952-1191G>A
XR_928451.1:n.947-1191G>A