Canonical Allele Identifier: CA392213289

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44858163C>A (hg19) ; chr15:g.44565965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565965C>A , CM000677.2:g.44565965C>A	GRCh38
NC_000015.9:g.44858163C>A , CM000677.1:g.44858163C>A	GRCh37
NC_000015.8:g.42645455C>A	NCBI36
NG_008885.1:g.102714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.579G>T	ENSP00000453314.2:p.Lys193Asn
ENST00000559511.6:c.6411G>T	ENSP00000453246.2:p.Lys2137Asn
ENST00000682065.1:c.6744G>T	ENSP00000507025.1:p.Lys2248Asn
ENST00000682460.1:c.*3145G>T	ENSP00000508334.1:n.*3145G>T
ENST00000682495.1:c.*3380G>T	ENSP00000507166.1:n.*3380G>T
ENST00000682669.1:c.6687G>T	ENSP00000507782.1:p.Lys2229Asn
ENST00000683186.1:c.*3651G>T	ENSP00000507268.1:n.*3651G>T
ENST00000683496.1:c.*530G>T	ENSP00000506968.1:n.*530G>T
ENST00000683734.1:c.*838G>T	ENSP00000508319.1:n.*838G>T
ENST00000683753.1:n.5934G>T
ENST00000684038.1:c.*3308G>T	ENSP00000507141.1:n.*3308G>T
ENST00000684235.1:c.6888G>T	ENSP00000508295.1:p.Lys2296Asn
ENST00000261866.12:c.6888G>T MANE Select	ENSP00000261866.7:p.Lys2296Asn
ENST00000261866.11:c.6888G>T	ENSP00000261866.7:p.Lys2296Asn
ENST00000427534.6:c.6754+1459G>T	ENSP00000396110.2:n.6754+1459G>T
ENST00000535302.6:c.6549G>T	ENSP00000445278.2:p.Lys2183Asn
ENST00000558138.1:c.579G>T	ENSP00000453314.1:p.Lys193Asn
ENST00000559511.5:c.1259G>T
ENST00000560299.1:n.180G>T
NM_001160227.1:c.6549G>T	NP_001153699.1:p.Lys2183Asn
NM_025137.3:c.6888G>T	NP_079413.3:p.Lys2296Asn
XM_005254695.3:c.6630G>T	XP_005254752.1:p.Lys2210Asn
XM_006720700.1:c.6744G>T	XP_006720763.1:p.Lys2248Asn
XM_017022634.1:c.6780G>T	XP_016878123.1:p.Lys2260Asn
XM_017022636.1:c.3765G>T	XP_016878125.1:p.Lys1255Asn
NM_025137.4:c.6888G>T MANE Select	NP_079413.3:p.Lys2296Asn
NM_001160227.2:c.6549G>T	NP_001153699.1:p.Lys2183Asn