Canonical Allele Identifier: CA7613069

Gene: SPG21

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64980971G>A , CM000677.2:g.64980971G>A	GRCh38
NC_000015.9:g.65273309G>A , CM000677.1:g.65273309G>A	GRCh37
NC_000015.8:g.63060362G>A	NCBI36
NG_008992.2:g.13943C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016630.7:c.118C>T MANE Select	NP_057714.1:p.Arg40Ter
ENST00000204566.7:c.118C>T MANE Select	ENSP00000204566.2:p.Arg40Ter
NM_001127889.4:c.118C>T	NP_001121361.1:p.Arg40Ter
NM_001127889.5:c.118C>T	NP_001121361.1:p.Arg40Ter
NM_001127890.4:c.118C>T	NP_001121362.1:p.Arg40Ter
NM_001127890.5:c.118C>T	NP_001121362.1:p.Arg40Ter
NM_016630.6:c.118C>T	NP_057714.1:p.Arg40Ter
ENST00000204566.6:c.118C>T	ENSP00000204566.2:p.Arg40Ter
ENST00000416889.6:c.118C>T	ENSP00000394846.2:p.Arg40Ter
ENST00000433215.6:c.118C>T	ENSP00000404111.2:p.Arg40Ter
ENST00000557795.5:c.118C>T	ENSP00000453541.1:p.Arg40Ter
ENST00000558415.5:c.118C>T	ENSP00000453167.1:p.Arg40Ter
ENST00000558765.5:c.118C>T	ENSP00000452728.1:p.Arg40Ter
ENST00000558943.5:c.118C>T	ENSP00000453362.1:p.Arg40Ter
ENST00000559199.5:c.-345C>T	ENSP00000456365.1:n.-345C>T
ENST00000559677.5:c.118C>T	ENSP00000453333.1:p.Arg40Ter
ENST00000560564.1:n.337C>T
ENST00000560878.1:c.118C>T	ENSP00000453658.1:p.Arg40Ter
ENST00000561078.5:c.118C>T	ENSP00000452865.1:p.Arg40Ter
XM_005254436.3:c.118C>T	XP_005254493.1:p.Arg40Ter
XM_005254437.3:c.118C>T	XP_005254494.1:p.Arg40Ter
XM_005254437.4:c.118C>T	XP_005254494.1:p.Arg40Ter
XM_006720564.2:c.118C>T	XP_006720627.1:p.Arg40Ter
XM_011521662.1:c.118C>T	XP_011519964.1:p.Arg40Ter
XM_017022297.1:c.118C>T	XP_016877786.1:p.Arg40Ter
XM_017022298.1:c.118C>T	XP_016877787.1:p.Arg40Ter