Canonical Allele Identifier: CA4827501

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100213859T>C , CM000670.2:g.100213859T>C	GRCh38
NC_000008.10:g.101226087T>C , CM000670.1:g.101226087T>C	GRCh37
NC_000008.9:g.101295263T>C	NCBI36
NG_033834.1:g.60825T>C
NG_033834.2:g.60825T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.1476T>C MANE Select	NP_003105.2:p.Asn492=
ENST00000388798.7:c.1476T>C MANE Select	ENSP00000373450.3:p.Asn492=
NM_001374321.1:c.1476T>C	NP_001361250.1:p.Asn492=
NM_003114.4:c.1476T>C	NP_003105.2:p.Asn492=
NM_172218.2:c.1476T>C	NP_757367.1:p.Asn492=
NM_172218.3:c.1476T>C	NP_757367.1:p.Asn492=
ENST00000251809.4:c.1476T>C	ENSP00000251809.3:p.Asn492=
ENST00000388798.6:c.1476T>C	ENSP00000373450.2:p.Asn492=
ENST00000523302.1:n.342+431T>C
XM_011517240.1:c.1476T>C	XP_011515542.1:p.Asn492=
XM_011517240.2:c.1476T>C	XP_011515542.1:p.Asn492=
XM_011517241.1:c.1476T>C	XP_011515543.1:p.Asn492=
XM_011517241.2:c.1476T>C	XP_011515543.1:p.Asn492=
XM_011517242.1:c.1476T>C	XP_011515544.1:p.Asn492=
XM_011517242.2:c.1476T>C	XP_011515544.1:p.Asn492=
XM_011517243.1:c.1476T>C	XP_011515545.1:p.Asn492=
XM_011517243.2:c.1476T>C	XP_011515545.1:p.Asn492=
XM_011517244.1:c.1476T>C	XP_011515546.1:p.Asn492=
XM_011517245.1:c.1435+431T>C	XP_011515547.1:n.1435+431T>C
XM_011517245.2:c.1435+431T>C	XP_011515547.1:n.1435+431T>C
XM_017013754.1:c.1581T>C	XP_016869243.1:p.Asn527=
XM_017013755.1:c.1140T>C	XP_016869244.1:p.Asn380=
XR_001745580.1:n.1562T>C
XR_001745581.1:n.1562T>C
XR_001745582.1:n.1521+431T>C
XR_001745583.1:n.1521+431T>C