Canonical Allele Identifier: CA7298586

Gene: SPATA7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88426616C>T , CM000676.2:g.88426616C>T	GRCh38
NC_000014.8:g.88892960C>T , CM000676.1:g.88892960C>T	GRCh37
NC_000014.7:g.87962713C>T	NCBI36
NG_021183.1:g.45973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.757C>T MANE Select	ENSP00000377176.4:p.Leu253=
ENST00000045347.11:c.757C>T	ENSP00000045347.7:p.Leu253=
ENST00000356583.9:c.661C>T	ENSP00000348991.5:p.Leu221=
ENST00000393545.8:c.757C>T	ENSP00000377176.4:p.Leu253=
ENST00000553626.5:n.885C>T
ENST00000555515.5:c.*632C>T	ENSP00000450882.1:n.*632C>T
ENST00000556553.5:c.661C>T	ENSP00000451128.1:p.Leu221=
ENST00000556666.5:n.1304C>T
NM_001040428.3:c.661C>T	NP_001035518.1:p.Leu221=
NM_018418.4:c.757C>T	NP_060888.2:p.Leu253=
XM_005267851.1:c.757C>T	XP_005267908.1:p.Leu253=
XM_005267852.1:c.661C>T	XP_005267909.1:p.Leu221=
XM_005267854.1:c.565C>T	XP_005267911.1:p.Leu189=
XM_005267855.1:c.565C>T	XP_005267912.1:p.Leu189=
XM_006720204.1:c.757C>T	XP_006720267.1:p.Leu253=
XM_006720205.1:c.757C>T	XP_006720268.1:p.Leu253=
XM_011536951.1:c.604C>T	XP_011535253.1:p.Leu202=
XM_011536952.1:c.586C>T	XP_011535254.1:p.Leu196=
XM_011536953.1:c.439C>T	XP_011535255.1:p.Leu147=
XM_005267852.2:c.661C>T	XP_005267909.1:p.Leu221=
XM_017021452.1:c.604C>T	XP_016876941.1:p.Leu202=
XM_017021453.1:c.565C>T	XP_016876942.1:p.Leu189=
XM_017021454.1:c.565C>T	XP_016876943.1:p.Leu189=
XM_017021455.1:c.565C>T	XP_016876944.1:p.Leu189=
XM_017021456.1:c.565C>T	XP_016876945.1:p.Leu189=
XM_017021457.1:c.439C>T	XP_016876946.1:p.Leu147=
XM_024449660.1:c.586C>T	XP_024305428.1:p.Leu196=
XR_002957563.1:n.828C>T
NM_018418.5:c.757C>T MANE Select	NP_060888.2:p.Leu253=
NM_001040428.4:c.661C>T	NP_001035518.1:p.Leu221=