Canonical Allele Identifier: CA392216312

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570563-C-T
• MyVariant Identifiers: chr15:g.44862761C>T (hg19) ; chr15:g.44570563C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.238G>A	ENSP00000453314.2:p.Asp80Asn
ENST00000559511.6:c.5962G>A	ENSP00000453246.2:p.Asp1988Asn
ENST00000682065.1:c.6295G>A	ENSP00000507025.1:p.Asp2099Asn
ENST00000682460.1:c.*2696G>A	ENSP00000508334.1:n.*2696G>A
ENST00000682495.1:c.*2931G>A	ENSP00000507166.1:n.*2931G>A
ENST00000682669.1:c.6238G>A	ENSP00000507782.1:p.Asp2080Asn
ENST00000683186.1:c.*3202G>A	ENSP00000507268.1:n.*3202G>A
ENST00000683496.1:c.*81G>A	ENSP00000506968.1:n.*81G>A
ENST00000683734.1:c.*389G>A	ENSP00000508319.1:n.*389G>A
ENST00000683753.1:n.5485G>A
ENST00000684038.1:c.*2859G>A	ENSP00000507141.1:n.*2859G>A
ENST00000684235.1:c.6439G>A	ENSP00000508295.1:p.Asp2147Asn
ENST00000261866.12:c.6439G>A MANE Select	ENSP00000261866.7:p.Asp2147Asn
ENST00000261866.11:c.6439G>A	ENSP00000261866.7:p.Asp2147Asn
ENST00000427534.6:c.6439G>A	ENSP00000396110.2:p.Asp2147Asn
ENST00000535302.6:c.6100G>A	ENSP00000445278.2:p.Asp2034Asn
ENST00000558138.1:c.238G>A	ENSP00000453314.1:p.Asp80Asn
ENST00000559347.1:n.268G>A
ENST00000559511.5:c.810G>A
ENST00000559933.1:n.508G>A
ENST00000561268.5:n.275+2120G>A
NM_001160227.1:c.6100G>A	NP_001153699.1:p.Asp2034Asn
NM_025137.3:c.6439G>A	NP_079413.3:p.Asp2147Asn
XM_005254695.3:c.6181G>A	XP_005254752.1:p.Asp2061Asn
XM_006720700.1:c.6295G>A	XP_006720763.1:p.Asp2099Asn
XM_017022634.1:c.6439G>A	XP_016878123.1:p.Asp2147Asn
XM_017022636.1:c.3316G>A	XP_016878125.1:p.Asp1106Asn
NM_025137.4:c.6439G>A MANE Select	NP_079413.3:p.Asp2147Asn
NM_001160227.2:c.6100G>A	NP_001153699.1:p.Asp2034Asn