Canonical Allele Identifier: CA129507

Gene: SYT14

Linked Data

• ClinVar Variation Id: 30861
• ClinVar RCV Id: RCV000023846
• dbSNP Id: rs387907033
• MyVariant Identifiers: chr1:g.210329217G>A (hg19) ; chr1:g.210155872G>A (hg38)
• PubMed: PMID:21835308

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367019.6:c.1316G>A MANE Select	ENSP00000355986.1:p.Gly439Asp
ENST00000699295.1:c.2186G>A	ENSP00000514275.1:p.Gly729Asp
ENST00000637265.1:c.2186G>A	ENSP00000489897.1:p.Gly729Asp
ENST00000637945.1:c.*1176G>A	ENSP00000489671.1:n.*1176G>A
ENST00000367015.5:c.1202G>A	ENSP00000355982.1:p.Gly401Asp
ENST00000367019.5:c.1316G>A	ENSP00000355986.1:p.Gly439Asp
ENST00000399639.6:c.*133G>A	ENSP00000445837.2:n.*133G>A
ENST00000472886.5:c.1316G>A	ENSP00000418901.1:p.Gly439Asp
ENST00000534859.2:c.1083G>A
ENST00000537238.5:c.1202G>A	ENSP00000437423.1:p.Gly401Asp
ENST00000629778.2:c.1451G>A	ENSP00000486230.1:p.Gly484Asp
NM_001146261.2:c.1451G>A	NP_001139733.1:p.Gly484Asp
NM_001146262.2:c.1316G>A	NP_001139734.1:p.Gly439Asp
NM_001146264.2:c.1451G>A	NP_001139736.1:p.Gly484Asp
NM_001256006.1:c.1202G>A	NP_001242935.1:p.Gly401Asp
NM_153262.3:c.1316G>A	NP_694994.2:p.Gly439Asp
NR_027459.2:n.1341G>A
XM_006711262.2:c.2186G>A	XP_006711325.1:p.Gly729Asp
XM_011509388.1:c.2186G>A	XP_011507690.1:p.Gly729Asp
XM_011509389.1:c.2186G>A	XP_011507691.1:p.Gly729Asp
XM_006711262.3:c.2186G>A	XP_006711325.1:p.Gly729Asp
XM_017000931.1:c.2186G>A	XP_016856420.1:p.Gly729Asp
XM_017000932.2:c.1202G>A	XP_016856421.1:p.Gly401Asp
XM_017000933.2:c.1202G>A	XP_016856422.1:p.Gly401Asp
XM_017000934.2:c.1202G>A	XP_016856423.1:p.Gly401Asp
XM_017000935.2:c.608G>A	XP_016856424.1:p.Gly203Asp
NM_001146262.3:c.1316G>A	NP_001139734.1:p.Gly439Asp
NM_001146264.3:c.1451G>A	NP_001139736.1:p.Gly484Asp
NM_153262.4:c.1316G>A	NP_694994.2:p.Gly439Asp
NR_027459.3:n.1298G>A
NM_001146261.3:c.1451G>A	NP_001139733.1:p.Gly484Asp
NM_001256006.2:c.1202G>A	NP_001242935.1:p.Gly401Asp
NM_001146261.4:c.1451G>A	NP_001139733.1:p.Gly484Asp
NM_001146262.4:c.1316G>A MANE Select	NP_001139734.1:p.Gly439Asp
NM_001146264.4:c.1451G>A	NP_001139736.1:p.Gly484Asp
NM_001256006.3:c.1202G>A	NP_001242935.1:p.Gly401Asp
NM_001397544.1:c.2186G>A	NP_001384473.1:p.Gly729Asp
NM_001397545.1:c.2186G>A	NP_001384474.1:p.Gly729Asp
NM_153262.5:c.1316G>A	NP_694994.2:p.Gly439Asp