Canonical Allele Identifier: CA7612831

Gene: SPG21

Linked Data

• ClinVar Variation Id: 316717
• ClinVar RCV Id: RCV000304248
• dbSNP Id: rs774586238
• ExAC: 15:65255914 A / G
• gnomAD v2: 15-65255914-A-G
• gnomAD v4: 15-64963573-A-G
• MyVariant Identifiers: chr15:g.65255914A>G (hg19) ; chr15:g.64963573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64963573A>G , CM000677.2:g.64963573A>G	GRCh38
NC_000015.9:g.65255914A>G , CM000677.1:g.65255914A>G	GRCh37
NC_000015.8:g.63042967A>G	NCBI36
NG_008992.2:g.31341T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000204566.7:c.*47T>C MANE Select	ENSP00000204566.2:n.*47T>C
ENST00000204566.6:c.*47T>C	ENSP00000204566.2:n.*47T>C
ENST00000416889.6:c.*47T>C	ENSP00000394846.2:n.*47T>C
ENST00000433215.6:c.*47T>C	ENSP00000404111.2:n.*47T>C
ENST00000559199.5:c.*47T>C	ENSP00000456365.1:n.*47T>C
ENST00000561078.5:c.*438T>C	ENSP00000452865.1:n.*438T>C
NM_001127889.4:c.*47T>C	NP_001121361.1:n.*47T>C
NM_001127890.4:c.*47T>C	NP_001121362.1:n.*47T>C
NM_016630.6:c.*47T>C	NP_057714.1:n.*47T>C
XM_005254436.3:c.*47T>C	XP_005254493.1:n.*47T>C
XM_005254437.3:c.*47T>C	XP_005254494.1:n.*47T>C
XM_006720564.2:c.*47T>C	XP_006720627.1:n.*47T>C
XM_011521662.1:c.*47T>C	XP_011519964.1:n.*47T>C
XM_005254437.4:c.*47T>C	XP_005254494.1:n.*47T>C
XM_017022297.1:c.*47T>C	XP_016877786.1:n.*47T>C
XM_017022298.1:c.*47T>C	XP_016877787.1:n.*47T>C
NM_016630.7:c.*47T>C MANE Select	NP_057714.1:n.*47T>C
NM_001127889.5:c.*47T>C	NP_001121361.1:n.*47T>C
NM_001127890.5:c.*47T>C	NP_001121362.1:n.*47T>C