Canonical Allele Identifier: CA264544769

Gene: SPATA7

Linked Data

• ClinVar Variation Id: 489379
• ClinVar RCV Id: RCV000578631 ; RCV000678631 ; RCV002466542
• dbSNP Id: rs374268850
• gnomAD v4: 14-88437553-C-T
• MyVariant Identifiers: chr14:g.88903897C>T (hg19) ; chr14:g.88437553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88437553C>T , CM000676.2:g.88437553C>T	GRCh38
NC_000014.8:g.88903897C>T , CM000676.1:g.88903897C>T	GRCh37
NC_000014.7:g.87973650C>T	NCBI36
NG_021183.1:g.56910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.1171C>T MANE Select	ENSP00000377176.4:p.Arg391Ter
ENST00000045347.11:c.1171C>T	ENSP00000045347.7:p.Arg391Ter
ENST00000356583.9:c.1075C>T	ENSP00000348991.5:p.Arg359Ter
ENST00000393545.8:c.1171C>T	ENSP00000377176.4:p.Arg391Ter
ENST00000553303.1:n.601C>T
ENST00000553626.5:n.2950C>T
ENST00000554802.1:c.67C>T	ENSP00000451019.1:p.Arg23Ter
ENST00000556406.5:c.144C>T
ENST00000556553.5:c.1075C>T	ENSP00000451128.1:p.Arg359Ter
ENST00000556666.5:n.1718C>T
NM_001040428.3:c.1075C>T	NP_001035518.1:p.Arg359Ter
NM_018418.4:c.1171C>T	NP_060888.2:p.Arg391Ter
XM_005267851.1:c.1174C>T	XP_005267908.1:p.Arg392Ter
XM_005267852.1:c.1078C>T	XP_005267909.1:p.Arg360Ter
XM_005267854.1:c.982C>T	XP_005267911.1:p.Arg328Ter
XM_005267855.1:c.982C>T	XP_005267912.1:p.Arg328Ter
XM_006720204.1:c.1174C>T	XP_006720267.1:p.Arg392Ter
XM_006720205.1:c.1174C>T	XP_006720268.1:p.Arg392Ter
XM_011536951.1:c.1021C>T	XP_011535253.1:p.Arg341Ter
XM_011536952.1:c.1003C>T	XP_011535254.1:p.Arg335Ter
XM_011536953.1:c.856C>T	XP_011535255.1:p.Arg286Ter
XM_005267852.2:c.1078C>T	XP_005267909.1:p.Arg360Ter
XM_017021452.1:c.1018C>T	XP_016876941.1:p.Arg340Ter
XM_017021453.1:c.982C>T	XP_016876942.1:p.Arg328Ter
XM_017021454.1:c.979C>T	XP_016876943.1:p.Arg327Ter
XM_017021455.1:c.979C>T	XP_016876944.1:p.Arg327Ter
XM_017021456.1:c.979C>T	XP_016876945.1:p.Arg327Ter
XM_017021457.1:c.853C>T	XP_016876946.1:p.Arg285Ter
XM_024449660.1:c.1000C>T	XP_024305428.1:p.Arg334Ter
XR_002957563.1:n.1352C>T
NM_018418.5:c.1171C>T MANE Select	NP_060888.2:p.Arg391Ter
NM_001040428.4:c.1075C>T	NP_001035518.1:p.Arg359Ter