Canonical Allele Identifier: CA3069741627
Community Standard Title: NM_003179.3(SYP):c.53A= (p.Gln18=)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49199017T= , CM000685.2:g.49199017T= GRCh38
NC_000023.10:g.49055476T= , CM000685.1:g.49055476T= GRCh37
NC_000023.9:g.48942420T= NCBI36
NG_012532.1:g.6186A=

Transcript Alleles

HGVS Amino-acid Change
NM_003179.3:c.53A= (SYP) MANE Select NP_003170.1:p.Gln18=
ENST00000263233.9:c.53A= (SYP) MANE Select ENSP00000263233.4:p.Gln18=
NM_003179.2:c.53A= (SYP) NP_003170.1:p.Gln18=
NR_046649.1:n.179T= (SYP-AS1)
ENST00000263233.8:c.53A= (SYP) ENSP00000263233.4:p.Gln18=
ENST00000376303.6:c.53A= (SYP) ENSP00000365480.2:p.Gln18=
ENST00000466635.1:c.53A= (SYP) ENSP00000420774.1:p.Gln18=
ENST00000469389.5:c.53A= (SYP) ENSP00000418987.1:p.Gln18=
ENST00000472598.5:c.43A= (SYP)
ENST00000472737.1:n.62A= (SYP)
ENST00000479808.5:c.53A= (SYP) ENSP00000418169.1:p.Gln18=
ENST00000494396.5:n.62A= (SYP)
ENST00000691258.1:n.85A= (SYP)
XM_011543950.1:c.53A= (SYP) XP_011542252.1:p.Gln18=
XM_011543951.1:c.-177A= (SYP) XP_011542253.1:n.-177A=