Canonical Allele Identifier: CA490329315

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44858154A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565956A>G , CM000677.2:g.44565956A>G	GRCh38
NC_000015.9:g.44858154A>G , CM000677.1:g.44858154A>G	GRCh37
NC_000015.8:g.42645446A>G	NCBI36
NG_008885.1:g.102723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.588T>C	ENSP00000453314.2:p.Thr196=
ENST00000559511.6:c.6420T>C	ENSP00000453246.2:p.Thr2140=
ENST00000682065.1:c.6753T>C	ENSP00000507025.1:p.Thr2251=
ENST00000682460.1:c.*3154T>C	ENSP00000508334.1:n.*3154T>C
ENST00000682495.1:c.*3389T>C	ENSP00000507166.1:n.*3389T>C
ENST00000682669.1:c.6696T>C	ENSP00000507782.1:p.Thr2232=
ENST00000683186.1:c.*3660T>C	ENSP00000507268.1:n.*3660T>C
ENST00000683496.1:c.*539T>C	ENSP00000506968.1:n.*539T>C
ENST00000683734.1:c.*847T>C	ENSP00000508319.1:n.*847T>C
ENST00000683753.1:n.5943T>C
ENST00000684038.1:c.*3317T>C	ENSP00000507141.1:n.*3317T>C
ENST00000684235.1:c.6897T>C	ENSP00000508295.1:p.Thr2299=
ENST00000261866.12:c.6897T>C MANE Select	ENSP00000261866.7:p.Thr2299=
ENST00000261866.11:c.6897T>C	ENSP00000261866.7:p.Thr2299=
ENST00000427534.6:c.6754+1468T>C	ENSP00000396110.2:n.6754+1468T>C
ENST00000535302.6:c.6558T>C	ENSP00000445278.2:p.Thr2186=
ENST00000558138.1:c.588T>C	ENSP00000453314.1:p.Thr196=
ENST00000559511.5:c.1268T>C
ENST00000560299.1:n.189T>C
NM_001160227.1:c.6558T>C	NP_001153699.1:p.Thr2186=
NM_025137.3:c.6897T>C	NP_079413.3:p.Thr2299=
XM_005254695.3:c.6639T>C	XP_005254752.1:p.Thr2213=
XM_006720700.1:c.6753T>C	XP_006720763.1:p.Thr2251=
XM_017022634.1:c.6789T>C	XP_016878123.1:p.Thr2263=
XM_017022636.1:c.3774T>C	XP_016878125.1:p.Thr1258=
NM_025137.4:c.6897T>C MANE Select	NP_079413.3:p.Thr2299=
NM_001160227.2:c.6558T>C	NP_001153699.1:p.Thr2186=