Canonical Allele Identifier: CA1378410
Gene: SYT14 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.210155872G>C , CM000663.2:g.210155872G>C GRCh38
NC_000001.10:g.210329217G>C , CM000663.1:g.210329217G>C GRCh37
NC_000001.9:g.208395840G>C NCBI36
NG_031962.1:g.222699G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367019.6:c.1316G>C MANE Select ENSP00000355986.1:p.Gly439Ala
ENST00000699295.1:c.2186G>C ENSP00000514275.1:p.Gly729Ala
ENST00000637265.1:c.2186G>C ENSP00000489897.1:p.Gly729Ala
ENST00000637945.1:c.*1176G>C ENSP00000489671.1:n.*1176G>C
ENST00000367015.5:c.1202G>C ENSP00000355982.1:p.Gly401Ala
ENST00000367019.5:c.1316G>C ENSP00000355986.1:p.Gly439Ala
ENST00000399639.6:c.*133G>C ENSP00000445837.2:n.*133G>C
ENST00000472886.5:c.1316G>C ENSP00000418901.1:p.Gly439Ala
ENST00000534859.2:c.1083G>C
ENST00000537238.5:c.1202G>C ENSP00000437423.1:p.Gly401Ala
ENST00000629778.2:c.1451G>C ENSP00000486230.1:p.Gly484Ala
NM_001146261.2:c.1451G>C NP_001139733.1:p.Gly484Ala
NM_001146262.2:c.1316G>C NP_001139734.1:p.Gly439Ala
NM_001146264.2:c.1451G>C NP_001139736.1:p.Gly484Ala
NM_001256006.1:c.1202G>C NP_001242935.1:p.Gly401Ala
NM_153262.3:c.1316G>C NP_694994.2:p.Gly439Ala
NR_027459.2:n.1341G>C
XM_006711262.2:c.2186G>C XP_006711325.1:p.Gly729Ala
XM_011509388.1:c.2186G>C XP_011507690.1:p.Gly729Ala
XM_011509389.1:c.2186G>C XP_011507691.1:p.Gly729Ala
XM_006711262.3:c.2186G>C XP_006711325.1:p.Gly729Ala
XM_017000931.1:c.2186G>C XP_016856420.1:p.Gly729Ala
XM_017000932.2:c.1202G>C XP_016856421.1:p.Gly401Ala
XM_017000933.2:c.1202G>C XP_016856422.1:p.Gly401Ala
XM_017000934.2:c.1202G>C XP_016856423.1:p.Gly401Ala
XM_017000935.2:c.608G>C XP_016856424.1:p.Gly203Ala
NM_001146262.3:c.1316G>C NP_001139734.1:p.Gly439Ala
NM_001146264.3:c.1451G>C NP_001139736.1:p.Gly484Ala
NM_153262.4:c.1316G>C NP_694994.2:p.Gly439Ala
NR_027459.3:n.1298G>C
NM_001146261.3:c.1451G>C NP_001139733.1:p.Gly484Ala
NM_001256006.2:c.1202G>C NP_001242935.1:p.Gly401Ala
NM_001146261.4:c.1451G>C NP_001139733.1:p.Gly484Ala
NM_001146262.4:c.1316G>C MANE Select NP_001139734.1:p.Gly439Ala
NM_001146264.4:c.1451G>C NP_001139736.1:p.Gly484Ala
NM_001256006.3:c.1202G>C NP_001242935.1:p.Gly401Ala
NM_001397544.1:c.2186G>C NP_001384473.1:p.Gly729Ala
NM_001397545.1:c.2186G>C NP_001384474.1:p.Gly729Ala
NM_153262.5:c.1316G>C NP_694994.2:p.Gly439Ala