Canonical Allele Identifier: CA392230396

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44890997G>A (hg19) ; chr15:g.44598799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598799G>A , CM000677.2:g.44598799G>A	GRCh38
NC_000015.9:g.44890997G>A , CM000677.1:g.44890997G>A	GRCh37
NC_000015.8:g.42678289G>A	NCBI36
NG_008885.1:g.69880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3724C>T	ENSP00000453246.2:p.Leu1242Phe
ENST00000682065.1:c.3724C>T	ENSP00000507025.1:p.Leu1242Phe
ENST00000682460.1:c.*144C>T	ENSP00000508334.1:n.*144C>T
ENST00000682495.1:c.*216C>T	ENSP00000507166.1:n.*216C>T
ENST00000682669.1:c.3523C>T	ENSP00000507782.1:p.Leu1175Phe
ENST00000682788.1:c.3724C>T	ENSP00000508089.1:p.Leu1242Phe
ENST00000682915.1:c.3817C>T	ENSP00000507493.1:n.3817C>T
ENST00000683121.1:c.3724C>T	ENSP00000507557.1:p.Leu1242Phe
ENST00000683186.1:c.*487C>T	ENSP00000507268.1:n.*487C>T
ENST00000683496.1:c.3724C>T	ENSP00000506968.1:p.Leu1242Phe
ENST00000683734.1:c.3724C>T	ENSP00000508319.1:p.Leu1242Phe
ENST00000683753.1:n.2770C>T
ENST00000683838.1:n.798C>T
ENST00000684038.1:c.*144C>T	ENSP00000507141.1:n.*144C>T
ENST00000684235.1:c.3724C>T	ENSP00000508295.1:p.Leu1242Phe
ENST00000684676.1:c.3724C>T	ENSP00000506948.1:p.Leu1242Phe
ENST00000261866.12:c.3724C>T MANE Select	ENSP00000261866.7:p.Leu1242Phe
ENST00000261866.11:c.3724C>T	ENSP00000261866.7:p.Leu1242Phe
ENST00000427534.6:c.3724C>T	ENSP00000396110.2:p.Leu1242Phe
ENST00000535302.6:c.3724C>T	ENSP00000445278.2:p.Leu1242Phe
ENST00000558093.1:n.338C>T
ENST00000558319.5:c.3724C>T	ENSP00000453599.1:p.Leu1242Phe
NM_001160227.1:c.3724C>T	NP_001153699.1:p.Leu1242Phe
NM_025137.3:c.3724C>T	NP_079413.3:p.Leu1242Phe
XM_005254695.3:c.3466C>T	XP_005254752.1:p.Leu1156Phe
XM_006720700.1:c.3724C>T	XP_006720763.1:p.Leu1242Phe
XM_006720701.2:c.3724C>T	XP_006720764.1:p.Leu1242Phe
XM_011522093.1:c.3687-426C>T	XP_011520395.1:n.3687-426C>T
XR_931917.1:n.3755C>T
XM_006720701.3:c.3724C>T	XP_006720764.1:p.Leu1242Phe
XM_017022634.1:c.3724C>T	XP_016878123.1:p.Leu1242Phe
XM_017022635.2:c.3724C>T	XP_016878124.1:p.Leu1242Phe
XM_017022636.1:c.601C>T	XP_016878125.1:p.Leu201Phe
XR_001751402.1:n.3718-426C>T
XR_931917.2:n.3755C>T
NM_025137.4:c.3724C>T MANE Select	NP_079413.3:p.Leu1242Phe
NM_001160227.2:c.3724C>T	NP_001153699.1:p.Leu1242Phe