Canonical Allele Identifier: CA392216300

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570559-T-C
• MyVariant Identifiers: chr15:g.44862757T>C (hg19) ; chr15:g.44570559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570559T>C , CM000677.2:g.44570559T>C	GRCh38
NC_000015.9:g.44862757T>C , CM000677.1:g.44862757T>C	GRCh37
NC_000015.8:g.42650049T>C	NCBI36
NG_008885.1:g.98120A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.242A>G	ENSP00000453314.2:p.Asn81Ser
ENST00000559511.6:c.5966A>G	ENSP00000453246.2:p.Asn1989Ser
ENST00000682065.1:c.6299A>G	ENSP00000507025.1:p.Asn2100Ser
ENST00000682460.1:c.*2700A>G	ENSP00000508334.1:n.*2700A>G
ENST00000682495.1:c.*2935A>G	ENSP00000507166.1:n.*2935A>G
ENST00000682669.1:c.6242A>G	ENSP00000507782.1:p.Asn2081Ser
ENST00000683186.1:c.*3206A>G	ENSP00000507268.1:n.*3206A>G
ENST00000683496.1:c.*85A>G	ENSP00000506968.1:n.*85A>G
ENST00000683734.1:c.*393A>G	ENSP00000508319.1:n.*393A>G
ENST00000683753.1:n.5489A>G
ENST00000684038.1:c.*2863A>G	ENSP00000507141.1:n.*2863A>G
ENST00000684235.1:c.6443A>G	ENSP00000508295.1:p.Asn2148Ser
ENST00000261866.12:c.6443A>G MANE Select	ENSP00000261866.7:p.Asn2148Ser
ENST00000261866.11:c.6443A>G	ENSP00000261866.7:p.Asn2148Ser
ENST00000427534.6:c.6443A>G	ENSP00000396110.2:p.Asn2148Ser
ENST00000535302.6:c.6104A>G	ENSP00000445278.2:p.Asn2035Ser
ENST00000558138.1:c.242A>G	ENSP00000453314.1:p.Asn81Ser
ENST00000559347.1:n.272A>G
ENST00000559511.5:c.814A>G
ENST00000559933.1:n.512A>G
ENST00000561268.5:n.275+2124A>G
NM_001160227.1:c.6104A>G	NP_001153699.1:p.Asn2035Ser
NM_025137.3:c.6443A>G	NP_079413.3:p.Asn2148Ser
XM_005254695.3:c.6185A>G	XP_005254752.1:p.Asn2062Ser
XM_006720700.1:c.6299A>G	XP_006720763.1:p.Asn2100Ser
XM_017022634.1:c.6443A>G	XP_016878123.1:p.Asn2148Ser
XM_017022636.1:c.3320A>G	XP_016878125.1:p.Asn1107Ser
NM_025137.4:c.6443A>G MANE Select	NP_079413.3:p.Asn2148Ser
NM_001160227.2:c.6104A>G	NP_001153699.1:p.Asn2035Ser