Canonical Allele Identifier: CA392222631

Gene: SPG11

Linked Data

• dbSNP Id: rs1466622120
• gnomAD v2: 15-44876481-C-G
• gnomAD v4: 15-44584283-C-G
• MyVariant Identifiers: chr15:g.44876481C>G (hg19) ; chr15:g.44584283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584283C>G , CM000677.2:g.44584283C>G	GRCh38
NC_000015.9:g.44876481C>G , CM000677.1:g.44876481C>G	GRCh37
NC_000015.8:g.42663773C>G	NCBI36
NG_008885.1:g.84396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5397G>C	ENSP00000453246.2:p.Lys1799Asn
ENST00000561391.2:n.1625G>C
ENST00000682065.1:c.5253G>C	ENSP00000507025.1:p.Lys1751Asn
ENST00000682460.1:c.*1654G>C	ENSP00000508334.1:n.*1654G>C
ENST00000682495.1:c.*1889G>C	ENSP00000507166.1:n.*1889G>C
ENST00000682669.1:c.5196G>C	ENSP00000507782.1:p.Lys1732Asn
ENST00000683186.1:c.*2160G>C	ENSP00000507268.1:n.*2160G>C
ENST00000683496.1:c.5397G>C	ENSP00000506968.1:p.Lys1799Asn
ENST00000683734.1:c.5397G>C	ENSP00000508319.1:p.Lys1799Asn
ENST00000683753.1:n.4443G>C
ENST00000684038.1:c.*1817G>C	ENSP00000507141.1:n.*1817G>C
ENST00000684235.1:c.5397G>C	ENSP00000508295.1:p.Lys1799Asn
ENST00000684676.1:c.5397G>C	ENSP00000506948.1:p.Lys1799Asn
ENST00000261866.12:c.5397G>C MANE Select	ENSP00000261866.7:p.Lys1799Asn
ENST00000261866.11:c.5397G>C	ENSP00000261866.7:p.Lys1799Asn
ENST00000427534.6:c.5397G>C	ENSP00000396110.2:p.Lys1799Asn
ENST00000535302.6:c.5397G>C	ENSP00000445278.2:p.Lys1799Asn
ENST00000558319.5:c.5397G>C	ENSP00000453599.1:p.Lys1799Asn
ENST00000558790.5:n.834G>C
ENST00000559511.5:c.245G>C
ENST00000559822.1:c.169G>C
NM_001160227.1:c.5397G>C	NP_001153699.1:p.Lys1799Asn
NM_025137.3:c.5397G>C	NP_079413.3:p.Lys1799Asn
XM_005254695.3:c.5139G>C	XP_005254752.1:p.Lys1713Asn
XM_006720700.1:c.5253G>C	XP_006720763.1:p.Lys1751Asn
XM_017022634.1:c.5397G>C	XP_016878123.1:p.Lys1799Asn
XM_017022636.1:c.2274G>C	XP_016878125.1:p.Lys758Asn
XR_931917.2:n.5451G>C
NM_025137.4:c.5397G>C MANE Select	NP_079413.3:p.Lys1799Asn
NM_001160227.2:c.5397G>C	NP_001153699.1:p.Lys1799Asn