Canonical Allele Identifier: CA392212336

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44856762A>C (hg19) ; chr15:g.44564564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564564A>C , CM000677.2:g.44564564A>C	GRCh38
NC_000015.9:g.44856762A>C , CM000677.1:g.44856762A>C	GRCh37
NC_000015.8:g.42644054A>C	NCBI36
NG_008885.1:g.104115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.825T>G	ENSP00000453314.2:p.Phe275Leu
ENST00000559511.6:c.6657T>G	ENSP00000453246.2:p.Phe2219Leu
ENST00000682065.1:c.6990T>G	ENSP00000507025.1:p.Phe2330Leu
ENST00000682460.1:c.*3391T>G	ENSP00000508334.1:n.*3391T>G
ENST00000682495.1:c.*3626T>G	ENSP00000507166.1:n.*3626T>G
ENST00000682669.1:c.6933T>G	ENSP00000507782.1:p.Phe2311Leu
ENST00000683186.1:c.*3897T>G	ENSP00000507268.1:n.*3897T>G
ENST00000683496.1:c.*776T>G	ENSP00000506968.1:n.*776T>G
ENST00000683734.1:c.*1084T>G	ENSP00000508319.1:n.*1084T>G
ENST00000683753.1:n.6180T>G
ENST00000684038.1:c.*3554T>G	ENSP00000507141.1:n.*3554T>G
ENST00000684235.1:c.7134T>G	ENSP00000508295.1:p.Phe2378Leu
ENST00000261866.12:c.7134T>G MANE Select	ENSP00000261866.7:p.Phe2378Leu
ENST00000261866.11:c.7134T>G	ENSP00000261866.7:p.Phe2378Leu
ENST00000427534.6:c.6755-1263T>G	ENSP00000396110.2:n.6755-1263T>G
ENST00000535302.6:c.6795T>G	ENSP00000445278.2:p.Phe2265Leu
ENST00000559511.5:c.1505T>G
ENST00000560299.1:n.426T>G
NM_001160227.1:c.6795T>G	NP_001153699.1:p.Phe2265Leu
NM_025137.3:c.7134T>G	NP_079413.3:p.Phe2378Leu
XM_005254695.3:c.6876T>G	XP_005254752.1:p.Phe2292Leu
XM_006720700.1:c.6990T>G	XP_006720763.1:p.Phe2330Leu
XM_017022634.1:c.7026T>G	XP_016878123.1:p.Phe2342Leu
XM_017022636.1:c.4011T>G	XP_016878125.1:p.Phe1337Leu
NM_025137.4:c.7134T>G MANE Select	NP_079413.3:p.Phe2378Leu
NM_001160227.2:c.6795T>G	NP_001153699.1:p.Phe2265Leu