Canonical Allele Identifier: CA371815883

Gene: SPAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100233511C>T , CM000670.2:g.100233511C>T	GRCh38
NC_000008.10:g.101245739C>T , CM000670.1:g.101245739C>T	GRCh37
NC_000008.9:g.101314915C>T	NCBI36
NG_033834.1:g.80477C>T
NG_033834.2:g.80477C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.2089C>T MANE Select	NP_003105.2:p.Arg697Ter
ENST00000388798.7:c.2089C>T MANE Select	ENSP00000373450.3:p.Arg697Ter
NM_001374321.1:c.2089C>T	NP_001361250.1:p.Arg697Ter
NM_003114.4:c.2089C>T	NP_003105.2:p.Arg697Ter
NM_172218.2:c.2089C>T	NP_757367.1:p.Arg697Ter
NM_172218.3:c.2089C>T	NP_757367.1:p.Arg697Ter
ENST00000251809.4:c.2089C>T	ENSP00000251809.3:p.Arg697Ter
ENST00000388798.6:c.2089C>T	ENSP00000373450.2:p.Arg697Ter
ENST00000519424.1:n.341C>T
XM_011517240.1:c.1936C>T	XP_011515542.1:p.Arg646Ter
XM_011517240.2:c.1936C>T	XP_011515542.1:p.Arg646Ter
XM_011517241.1:c.2089C>T	XP_011515543.1:p.Arg697Ter
XM_011517241.2:c.2089C>T	XP_011515543.1:p.Arg697Ter
XM_011517242.1:c.2089C>T	XP_011515544.1:p.Arg697Ter
XM_011517242.2:c.2089C>T	XP_011515544.1:p.Arg697Ter
XM_011517243.1:c.2089C>T	XP_011515545.1:p.Arg697Ter
XM_011517243.2:c.2089C>T	XP_011515545.1:p.Arg697Ter
XM_011517244.1:c.1988+2223C>T	XP_011515546.1:n.1988+2223C>T
XM_017013754.1:c.2194C>T	XP_016869243.1:p.Arg732Ter
XM_017013755.1:c.1753C>T	XP_016869244.1:p.Arg585Ter
XR_001745580.1:n.2074+2223C>T
XR_001745581.1:n.1907+2223C>T
XR_001745582.1:n.2075C>T