Canonical Allele Identifier: CA7613085
Community Standard Title: NM_016630.7(SPG21):c.64A>G (p.Ile22Val)
Gene: SPG21 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64981025T>C , CM000677.2:g.64981025T>C GRCh38
NC_000015.9:g.65273363T>C , CM000677.1:g.65273363T>C GRCh37
NC_000015.8:g.63060416T>C NCBI36
NG_008992.2:g.13889A>G

Transcript Alleles

HGVS Amino-acid Change
NM_016630.7:c.64A>G MANE Select NP_057714.1:p.Ile22Val
ENST00000204566.7:c.64A>G MANE Select ENSP00000204566.2:p.Ile22Val
NM_001127889.4:c.64A>G NP_001121361.1:p.Ile22Val
NM_001127889.5:c.64A>G NP_001121361.1:p.Ile22Val
NM_001127890.4:c.64A>G NP_001121362.1:p.Ile22Val
NM_001127890.5:c.64A>G NP_001121362.1:p.Ile22Val
NM_016630.6:c.64A>G NP_057714.1:p.Ile22Val
ENST00000204566.6:c.64A>G ENSP00000204566.2:p.Ile22Val
ENST00000416889.6:c.64A>G ENSP00000394846.2:p.Ile22Val
ENST00000433215.6:c.64A>G ENSP00000404111.2:p.Ile22Val
ENST00000557795.5:c.64A>G ENSP00000453541.1:p.Ile22Val
ENST00000558415.5:c.64A>G ENSP00000453167.1:p.Ile22Val
ENST00000558765.5:c.64A>G ENSP00000452728.1:p.Ile22Val
ENST00000558943.5:c.64A>G ENSP00000453362.1:p.Ile22Val
ENST00000559199.5:c.-399A>G ENSP00000456365.1:n.-399A>G
ENST00000559677.5:c.64A>G ENSP00000453333.1:p.Ile22Val
ENST00000560564.1:n.283A>G
ENST00000560878.1:c.64A>G ENSP00000453658.1:p.Ile22Val
ENST00000561078.5:c.64A>G ENSP00000452865.1:p.Ile22Val
XM_005254436.3:c.64A>G XP_005254493.1:p.Ile22Val
XM_005254437.3:c.64A>G XP_005254494.1:p.Ile22Val
XM_005254437.4:c.64A>G XP_005254494.1:p.Ile22Val
XM_006720564.2:c.64A>G XP_006720627.1:p.Ile22Val
XM_011521662.1:c.64A>G XP_011519964.1:p.Ile22Val
XM_017022297.1:c.64A>G XP_016877786.1:p.Ile22Val
XM_017022298.1:c.64A>G XP_016877787.1:p.Ile22Val