Canonical Allele Identifier: CA501037

Gene: SPATA7

Linked Data

• ClinVar Variation Id: 427873
• ClinVar RCV Id: RCV000515718
• dbSNP Id: rs371609982
• MyVariant Identifiers: chr14:g.88852181G>A (hg19) ; chr14:g.88385837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88385837G>A , CM000676.2:g.88385837G>A	GRCh38
NC_000014.8:g.88852181G>A , CM000676.1:g.88852181G>A	GRCh37
NC_000014.7:g.87921934G>A	NCBI36
NG_021183.1:g.5194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.19G>A MANE Select	ENSP00000377176.4:p.Val7Ile
ENST00000045347.11:c.19G>A	ENSP00000045347.7:p.Val7Ile
ENST00000356583.9:c.19G>A	ENSP00000348991.5:p.Val7Ile
ENST00000393545.8:c.19G>A	ENSP00000377176.4:p.Val7Ile
ENST00000553626.5:n.147G>A
ENST00000553885.5:c.19G>A	ENSP00000450606.1:p.Val7Ile
ENST00000553908.5:c.19G>A	ENSP00000452546.1:p.Val7Ile
ENST00000554102.5:n.162G>A
ENST00000554168.5:c.19G>A	ENSP00000451663.1:p.Gly7Ser
ENST00000555356.5:c.19G>A	ENSP00000450654.1:p.Gly7Ser
ENST00000555401.5:c.19G>A	ENSP00000452435.1:p.Ala7Thr
ENST00000555515.5:c.19G>A	ENSP00000450882.1:p.Val7Ile
ENST00000555534.5:c.19G>A	ENSP00000450515.1:p.Val7Ile
ENST00000555715.5:c.19G>A	ENSP00000451181.1:p.Val7Ile
ENST00000556553.5:c.19G>A	ENSP00000451128.1:p.Val7Ile
ENST00000556870.5:c.19G>A	ENSP00000452359.1:p.Val7Ile
ENST00000557248.5:c.19G>A	ENSP00000451690.1:p.Val7Ile
ENST00000557567.1:n.138G>A
ENST00000557724.5:c.19G>A	ENSP00000452364.1:p.Gly7Ser
NM_001040428.3:c.19G>A	NP_001035518.1:p.Val7Ile
NM_018418.4:c.19G>A	NP_060888.2:p.Val7Ile
XM_005267851.1:c.19G>A	XP_005267908.1:p.Val7Ile
XM_005267852.1:c.19G>A	XP_005267909.1:p.Val7Ile
XM_005267854.1:c.-236G>A	XP_005267911.1:n.-236G>A
XM_005267855.1:c.-140G>A	XP_005267912.1:n.-140G>A
XM_006720204.1:c.19G>A	XP_006720267.1:p.Val7Ile
XM_006720205.1:c.19G>A	XP_006720268.1:p.Val7Ile
XM_011536951.1:c.-329G>A	XP_011535253.1:n.-329G>A
XM_011536952.1:c.19G>A	XP_011535254.1:p.Ala7Thr
XM_011536953.1:c.-398G>A	XP_011535255.1:n.-398G>A
XM_005267852.2:c.19G>A	XP_005267909.1:p.Val7Ile
XM_017021452.1:c.-329G>A	XP_016876941.1:n.-329G>A
XM_017021453.1:c.-334G>A	XP_016876942.1:n.-334G>A
XM_017021454.1:c.-236G>A	XP_016876943.1:n.-236G>A
XM_017021455.1:c.-140G>A	XP_016876944.1:n.-140G>A
XM_017021457.1:c.-398G>A	XP_016876946.1:n.-398G>A
XM_024449660.1:c.19G>A	XP_024305428.1:p.Ala7Thr
XR_002957563.1:n.186G>A
NM_018418.5:c.19G>A MANE Select	NP_060888.2:p.Val7Ile
NM_001040428.4:c.19G>A	NP_001035518.1:p.Val7Ile