Canonical Allele Identifier: CA371808984

Gene: SPAG1

Linked Data

• MyVariant Identifiers: chr8:g.101225446A>T (hg19) ; chr8:g.100213218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100213218A>T , CM000670.2:g.100213218A>T	GRCh38
NC_000008.10:g.101225446A>T , CM000670.1:g.101225446A>T	GRCh37
NC_000008.9:g.101294622A>T	NCBI36
NG_033834.1:g.60184A>T
NG_033834.2:g.60184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.1225A>T MANE Select	ENSP00000373450.3:p.Thr409Ser
ENST00000251809.4:c.1225A>T	ENSP00000251809.3:p.Thr409Ser
ENST00000388798.6:c.1225A>T	ENSP00000373450.2:p.Thr409Ser
ENST00000523302.1:n.132A>T
NM_003114.4:c.1225A>T	NP_003105.2:p.Thr409Ser
NM_172218.2:c.1225A>T	NP_757367.1:p.Thr409Ser
XM_011517240.1:c.1225A>T	XP_011515542.1:p.Thr409Ser
XM_011517241.1:c.1225A>T	XP_011515543.1:p.Thr409Ser
XM_011517242.1:c.1225A>T	XP_011515544.1:p.Thr409Ser
XM_011517243.1:c.1225A>T	XP_011515545.1:p.Thr409Ser
XM_011517244.1:c.1225A>T	XP_011515546.1:p.Thr409Ser
XM_011517245.1:c.1225A>T	XP_011515547.1:p.Thr409Ser
XM_011517240.2:c.1225A>T	XP_011515542.1:p.Thr409Ser
XM_011517241.2:c.1225A>T	XP_011515543.1:p.Thr409Ser
XM_011517242.2:c.1225A>T	XP_011515544.1:p.Thr409Ser
XM_011517243.2:c.1225A>T	XP_011515545.1:p.Thr409Ser
XM_011517245.2:c.1225A>T	XP_011515547.1:p.Thr409Ser
XM_017013754.1:c.1330A>T	XP_016869243.1:p.Thr444Ser
XM_017013755.1:c.889A>T	XP_016869244.1:p.Thr297Ser
XR_001745580.1:n.1311A>T
XR_001745581.1:n.1311A>T
XR_001745582.1:n.1311A>T
XR_001745583.1:n.1311A>T
NM_001374321.1:c.1225A>T	NP_001361250.1:p.Thr409Ser
NM_003114.5:c.1225A>T MANE Select	NP_003105.2:p.Thr409Ser
NM_172218.3:c.1225A>T	NP_757367.1:p.Thr409Ser