Canonical Allele Identifier: CA338450

Gene: SPG21

Linked Data

• ClinVar Variation Id: 215896
• ClinVar RCV Id: RCV000199178 ; RCV000518621 ; RCV001847898 ; RCV003389761
• dbSNP Id: rs146986015
• ExAC: 15:65256042 C / T
• gnomAD v2: 15-65256042-C-T
• gnomAD v3: 15-64963701-C-T
• gnomAD v4: 15-64963701-C-T
• MyVariant Identifiers: chr15:g.65256042C>T (hg19) ; chr15:g.64963701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64963701C>T , CM000677.2:g.64963701C>T	GRCh38
NC_000015.9:g.65256042C>T , CM000677.1:g.65256042C>T	GRCh37
NC_000015.8:g.63043095C>T	NCBI36
NG_008992.2:g.31213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204566.7:c.846G>A MANE Select	ENSP00000204566.2:p.Ala282=
ENST00000204566.6:c.846G>A	ENSP00000204566.2:p.Ala282=
ENST00000416889.6:c.765G>A	ENSP00000394846.2:p.Ala255=
ENST00000433215.6:c.846G>A	ENSP00000404111.2:p.Ala282=
ENST00000559199.5:c.384G>A	ENSP00000456365.1:p.Ala128=
ENST00000561078.5:c.*310G>A	ENSP00000452865.1:n.*310G>A
NM_001127889.4:c.846G>A	NP_001121361.1:p.Ala282=
NM_001127890.4:c.765G>A	NP_001121362.1:p.Ala255=
NM_016630.6:c.846G>A	NP_057714.1:p.Ala282=
XM_005254436.3:c.846G>A	XP_005254493.1:p.Ala282=
XM_005254437.3:c.846G>A	XP_005254494.1:p.Ala282=
XM_006720564.2:c.846G>A	XP_006720627.1:p.Ala282=
XM_011521662.1:c.846G>A	XP_011519964.1:p.Ala282=
XM_005254437.4:c.846G>A	XP_005254494.1:p.Ala282=
XM_017022297.1:c.846G>A	XP_016877786.1:p.Ala282=
XM_017022298.1:c.846G>A	XP_016877787.1:p.Ala282=
NM_016630.7:c.846G>A MANE Select	NP_057714.1:p.Ala282=
NM_001127889.5:c.846G>A	NP_001121361.1:p.Ala282=
NM_001127890.5:c.765G>A	NP_001121362.1:p.Ala255=