Canonical Allele Identifier: CA390556249

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88416755C>T , CM000676.2:g.88416755C>T	GRCh38
NC_000014.8:g.88883099C>T , CM000676.1:g.88883099C>T	GRCh37
NC_000014.7:g.87952852C>T	NCBI36
NG_021183.1:g.36112C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.283C>T MANE Select	NP_060888.2:p.Gln95Ter
ENST00000393545.9:c.283C>T MANE Select	ENSP00000377176.4:p.Gln95Ter
NM_001040428.3:c.187C>T	NP_001035518.1:p.Gln63Ter
NM_001040428.4:c.187C>T	NP_001035518.1:p.Gln63Ter
NM_018418.4:c.283C>T	NP_060888.2:p.Gln95Ter
ENST00000045347.11:c.283C>T	ENSP00000045347.7:p.Gln95Ter
ENST00000356583.9:c.187C>T	ENSP00000348991.5:p.Gln63Ter
ENST00000393545.8:c.283C>T	ENSP00000377176.4:p.Gln95Ter
ENST00000553626.5:n.411C>T
ENST00000553885.5:c.241C>T	ENSP00000450606.1:p.Gln81Ter
ENST00000553908.5:c.*158C>T	ENSP00000452546.1:n.*158C>T
ENST00000554168.5:c.*240C>T	ENSP00000451663.1:n.*240C>T
ENST00000555356.5:c.*299C>T	ENSP00000450654.1:n.*299C>T
ENST00000555401.5:c.112C>T	ENSP00000452435.1:p.Gln38Ter
ENST00000555515.5:c.*158C>T	ENSP00000450882.1:n.*158C>T
ENST00000555534.5:c.*87C>T	ENSP00000450515.1:n.*87C>T
ENST00000556553.5:c.187C>T	ENSP00000451128.1:p.Gln63Ter
ENST00000556666.5:n.830C>T
ENST00000556870.5:c.*87C>T	ENSP00000452359.1:n.*87C>T
ENST00000557248.5:c.*3C>T	ENSP00000451690.1:n.*3C>T
XM_005267851.1:c.283C>T	XP_005267908.1:p.Gln95Ter
XM_005267852.1:c.187C>T	XP_005267909.1:p.Gln63Ter
XM_005267852.2:c.187C>T	XP_005267909.1:p.Gln63Ter
XM_005267854.1:c.91C>T	XP_005267911.1:p.Gln31Ter
XM_005267855.1:c.91C>T	XP_005267912.1:p.Gln31Ter
XM_006720204.1:c.283C>T	XP_006720267.1:p.Gln95Ter
XM_006720205.1:c.283C>T	XP_006720268.1:p.Gln95Ter
XM_011536951.1:c.130C>T	XP_011535253.1:p.Gln44Ter
XM_011536952.1:c.112C>T	XP_011535254.1:p.Gln38Ter
XM_011536953.1:c.-36C>T	XP_011535255.1:n.-36C>T
XM_017021452.1:c.130C>T	XP_016876941.1:p.Gln44Ter
XM_017021453.1:c.91C>T	XP_016876942.1:p.Gln31Ter
XM_017021454.1:c.91C>T	XP_016876943.1:p.Gln31Ter
XM_017021455.1:c.91C>T	XP_016876944.1:p.Gln31Ter
XM_017021456.1:c.91C>T	XP_016876945.1:p.Gln31Ter
XM_017021457.1:c.-36C>T	XP_016876946.1:n.-36C>T
XM_024449660.1:c.112C>T	XP_024305428.1:p.Gln38Ter
XR_002957563.1:n.354C>T