Canonical Allele Identifier: CA392216310

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862761C>A (hg19) ; chr15:g.44570563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570563C>A , CM000677.2:g.44570563C>A	GRCh38
NC_000015.9:g.44862761C>A , CM000677.1:g.44862761C>A	GRCh37
NC_000015.8:g.42650053C>A	NCBI36
NG_008885.1:g.98116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.238G>T	ENSP00000453314.2:p.Asp80Tyr
ENST00000559511.6:c.5962G>T	ENSP00000453246.2:p.Asp1988Tyr
ENST00000682065.1:c.6295G>T	ENSP00000507025.1:p.Asp2099Tyr
ENST00000682460.1:c.*2696G>T	ENSP00000508334.1:n.*2696G>T
ENST00000682495.1:c.*2931G>T	ENSP00000507166.1:n.*2931G>T
ENST00000682669.1:c.6238G>T	ENSP00000507782.1:p.Asp2080Tyr
ENST00000683186.1:c.*3202G>T	ENSP00000507268.1:n.*3202G>T
ENST00000683496.1:c.*81G>T	ENSP00000506968.1:n.*81G>T
ENST00000683734.1:c.*389G>T	ENSP00000508319.1:n.*389G>T
ENST00000683753.1:n.5485G>T
ENST00000684038.1:c.*2859G>T	ENSP00000507141.1:n.*2859G>T
ENST00000684235.1:c.6439G>T	ENSP00000508295.1:p.Asp2147Tyr
ENST00000261866.12:c.6439G>T MANE Select	ENSP00000261866.7:p.Asp2147Tyr
ENST00000261866.11:c.6439G>T	ENSP00000261866.7:p.Asp2147Tyr
ENST00000427534.6:c.6439G>T	ENSP00000396110.2:p.Asp2147Tyr
ENST00000535302.6:c.6100G>T	ENSP00000445278.2:p.Asp2034Tyr
ENST00000558138.1:c.238G>T	ENSP00000453314.1:p.Asp80Tyr
ENST00000559347.1:n.268G>T
ENST00000559511.5:c.810G>T
ENST00000559933.1:n.508G>T
ENST00000561268.5:n.275+2120G>T
NM_001160227.1:c.6100G>T	NP_001153699.1:p.Asp2034Tyr
NM_025137.3:c.6439G>T	NP_079413.3:p.Asp2147Tyr
XM_005254695.3:c.6181G>T	XP_005254752.1:p.Asp2061Tyr
XM_006720700.1:c.6295G>T	XP_006720763.1:p.Asp2099Tyr
XM_017022634.1:c.6439G>T	XP_016878123.1:p.Asp2147Tyr
XM_017022636.1:c.3316G>T	XP_016878125.1:p.Asp1106Tyr
NM_025137.4:c.6439G>T MANE Select	NP_079413.3:p.Asp2147Tyr
NM_001160227.2:c.6100G>T	NP_001153699.1:p.Asp2034Tyr