Canonical Allele Identifier: CA7613015
Community Standard Title: NM_016630.7(SPG21):c.243T>C (p.Tyr81=)
Gene: SPG21 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64976538A>G , CM000677.2:g.64976538A>G GRCh38
NC_000015.9:g.65268876A>G , CM000677.1:g.65268876A>G GRCh37
NC_000015.8:g.63055929A>G NCBI36
NG_008992.2:g.18376T>C

Transcript Alleles

HGVS Amino-acid Change
NM_016630.7:c.243T>C MANE Select NP_057714.1:p.Tyr81=
ENST00000204566.7:c.243T>C MANE Select ENSP00000204566.2:p.Tyr81=
NM_001127889.4:c.243T>C NP_001121361.1:p.Tyr81=
NM_001127889.5:c.243T>C NP_001121361.1:p.Tyr81=
NM_001127890.4:c.226-1791T>C NP_001121362.1:n.226-1791T>C
NM_001127890.5:c.226-1791T>C NP_001121362.1:n.226-1791T>C
NM_016630.6:c.243T>C NP_057714.1:p.Tyr81=
ENST00000204566.6:c.243T>C ENSP00000204566.2:p.Tyr81=
ENST00000416889.6:c.226-1791T>C ENSP00000394846.2:n.226-1791T>C
ENST00000433215.6:c.243T>C ENSP00000404111.2:p.Tyr81=
ENST00000557795.5:c.243T>C ENSP00000453541.1:p.Tyr81=
ENST00000558765.5:c.243T>C ENSP00000452728.1:p.Tyr81=
ENST00000559199.5:c.-220T>C ENSP00000456365.1:n.-220T>C
ENST00000559677.5:c.243T>C ENSP00000453333.1:p.Tyr81=
ENST00000560564.1:n.462T>C
ENST00000561078.5:c.243T>C ENSP00000452865.1:p.Tyr81=
XM_005254436.3:c.243T>C XP_005254493.1:p.Tyr81=
XM_005254437.3:c.243T>C XP_005254494.1:p.Tyr81=
XM_005254437.4:c.243T>C XP_005254494.1:p.Tyr81=
XM_006720564.2:c.243T>C XP_006720627.1:p.Tyr81=
XM_011521662.1:c.243T>C XP_011519964.1:p.Tyr81=
XM_017022297.1:c.243T>C XP_016877786.1:p.Tyr81=
XM_017022298.1:c.243T>C XP_016877787.1:p.Tyr81=