Canonical Allele Identifier: CA7298786

Gene: SPATA7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88437877T>C , CM000676.2:g.88437877T>C	GRCh38
NC_000014.8:g.88904221T>C , CM000676.1:g.88904221T>C	GRCh37
NC_000014.7:g.87973974T>C	NCBI36
NG_021183.1:g.57234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393545.9:c.1255T>C MANE Select	ENSP00000377176.4:p.Leu419=
ENST00000045347.11:c.1255T>C	ENSP00000045347.7:p.Leu419=
ENST00000356583.9:c.1159T>C	ENSP00000348991.5:p.Leu387=
ENST00000393545.8:c.1255T>C	ENSP00000377176.4:p.Leu419=
ENST00000553303.1:n.685T>C
ENST00000553626.5:n.3034T>C
ENST00000554802.1:c.151T>C	ENSP00000451019.1:p.Leu51=
ENST00000556406.5:c.228T>C
ENST00000556553.5:c.1159T>C	ENSP00000451128.1:p.Leu387=
ENST00000556666.5:n.1802T>C
NM_001040428.3:c.1159T>C	NP_001035518.1:p.Leu387=
NM_018418.4:c.1255T>C	NP_060888.2:p.Leu419=
XM_005267851.1:c.1258T>C	XP_005267908.1:p.Leu420=
XM_005267852.1:c.1162T>C	XP_005267909.1:p.Leu388=
XM_005267854.1:c.1066T>C	XP_005267911.1:p.Leu356=
XM_005267855.1:c.1066T>C	XP_005267912.1:p.Leu356=
XM_006720204.1:c.1258T>C	XP_006720267.1:p.Leu420=
XM_006720205.1:c.1258T>C	XP_006720268.1:p.Leu420=
XM_011536951.1:c.1105T>C	XP_011535253.1:p.Leu369=
XM_011536952.1:c.1087T>C	XP_011535254.1:p.Leu363=
XM_011536953.1:c.940T>C	XP_011535255.1:p.Leu314=
XM_005267852.2:c.1162T>C	XP_005267909.1:p.Leu388=
XM_017021452.1:c.1102T>C	XP_016876941.1:p.Leu368=
XM_017021453.1:c.1066T>C	XP_016876942.1:p.Leu356=
XM_017021454.1:c.1063T>C	XP_016876943.1:p.Leu355=
XM_017021455.1:c.1063T>C	XP_016876944.1:p.Leu355=
XM_017021456.1:c.1063T>C	XP_016876945.1:p.Leu355=
XM_017021457.1:c.937T>C	XP_016876946.1:p.Leu313=
XM_024449660.1:c.1084T>C	XP_024305428.1:p.Leu362=
NM_018418.5:c.1255T>C MANE Select	NP_060888.2:p.Leu419=
NM_001040428.4:c.1159T>C	NP_001035518.1:p.Leu387=