Canonical Allele Identifier: CA371816947

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100239239G>T , CM000670.2:g.100239239G>T	GRCh38
NC_000008.10:g.101251467G>T , CM000670.1:g.101251467G>T	GRCh37
NC_000008.9:g.101320643G>T	NCBI36
NG_033834.1:g.86205G>T
NG_033834.2:g.86205G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.2116-1G>T MANE Select	NP_003105.2:n.2116-1G>T
ENST00000388798.7:c.2116-1G>T MANE Select	ENSP00000373450.3:n.2116-1G>T
NM_001374321.1:c.2116-1G>T	NP_001361250.1:n.2116-1G>T
NM_003114.4:c.2116-1G>T	NP_003105.2:n.2116-1G>T
NM_172218.2:c.2116-1G>T	NP_757367.1:n.2116-1G>T
NM_172218.3:c.2116-1G>T	NP_757367.1:n.2116-1G>T
ENST00000251809.4:c.2116-1G>T	ENSP00000251809.3:n.2116-1G>T
ENST00000388798.6:c.2116-1G>T	ENSP00000373450.2:n.2116-1G>T
ENST00000519424.1:n.368-1G>T
XM_011517240.1:c.1963-1G>T	XP_011515542.1:n.1963-1G>T
XM_011517240.2:c.1963-1G>T	XP_011515542.1:n.1963-1G>T
XM_011517241.1:c.2116-1164G>T	XP_011515543.1:n.2116-1164G>T
XM_011517241.2:c.2116-1164G>T	XP_011515543.1:n.2116-1164G>T
XM_011517242.1:c.2116-1G>T	XP_011515544.1:n.2116-1G>T
XM_011517242.2:c.2116-1G>T	XP_011515544.1:n.2116-1G>T
XM_011517243.1:c.2116-1G>T	XP_011515545.1:n.2116-1G>T
XM_011517243.2:c.2116-1G>T	XP_011515545.1:n.2116-1G>T
XM_011517244.1:c.1989-1G>T	XP_011515546.1:n.1989-1G>T
XM_017013754.1:c.2221-1G>T	XP_016869243.1:n.2221-1G>T
XM_017013755.1:c.1780-1G>T	XP_016869244.1:n.1780-1G>T
XR_001745580.1:n.2075-1G>T
XR_001745581.1:n.1908-1G>T
XR_001745582.1:n.2102-1G>T
XR_928449.1:n.89-1805C>A
XR_928449.3:n.87-1805C>A