Canonical Allele Identifier: CA390572154

Gene: SPATA7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88438096T>C , CM000676.2:g.88438096T>C	GRCh38
NC_000014.8:g.88904440T>C , CM000676.1:g.88904440T>C	GRCh37
NC_000014.7:g.87974193T>C	NCBI36
NG_021183.1:g.57453T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018418.5:c.1474T>C MANE Select	NP_060888.2:p.Phe492Leu
ENST00000393545.9:c.1474T>C MANE Select	ENSP00000377176.4:p.Phe492Leu
NM_001040428.3:c.1378T>C	NP_001035518.1:p.Phe460Leu
NM_001040428.4:c.1378T>C	NP_001035518.1:p.Phe460Leu
NM_018418.4:c.1474T>C	NP_060888.2:p.Phe492Leu
ENST00000045347.11:c.1281+193T>C	ENSP00000045347.7:n.1281+193T>C
ENST00000356583.9:c.1378T>C	ENSP00000348991.5:p.Phe460Leu
ENST00000393545.8:c.1474T>C	ENSP00000377176.4:p.Phe492Leu
ENST00000553626.5:n.3253T>C
ENST00000554802.1:c.177+193T>C	ENSP00000451019.1:n.177+193T>C
ENST00000556406.5:c.254+193T>C
ENST00000556553.5:c.1378T>C	ENSP00000451128.1:p.Phe460Leu
ENST00000556666.5:n.2021T>C
XM_005267851.1:c.1477T>C	XP_005267908.1:p.Phe493Leu
XM_005267852.1:c.1381T>C	XP_005267909.1:p.Phe461Leu
XM_005267852.2:c.1381T>C	XP_005267909.1:p.Phe461Leu
XM_005267854.1:c.1285T>C	XP_005267911.1:p.Phe429Leu
XM_005267855.1:c.1285T>C	XP_005267912.1:p.Phe429Leu
XM_006720204.1:c.1284+193T>C	XP_006720267.1:n.1284+193T>C
XM_006720205.1:c.1284+193T>C	XP_006720268.1:n.1284+193T>C
XM_011536951.1:c.1324T>C	XP_011535253.1:p.Phe442Leu
XM_011536952.1:c.1306T>C	XP_011535254.1:p.Phe436Leu
XM_011536953.1:c.1159T>C	XP_011535255.1:p.Phe387Leu
XM_017021452.1:c.1321T>C	XP_016876941.1:p.Phe441Leu
XM_017021453.1:c.1285T>C	XP_016876942.1:p.Phe429Leu
XM_017021454.1:c.1282T>C	XP_016876943.1:p.Phe428Leu
XM_017021455.1:c.1282T>C	XP_016876944.1:p.Phe428Leu
XM_017021456.1:c.1282T>C	XP_016876945.1:p.Phe428Leu
XM_017021457.1:c.1156T>C	XP_016876946.1:p.Phe386Leu
XM_024449660.1:c.1303T>C	XP_024305428.1:p.Phe435Leu