Canonical Allele Identifier: CA385931875

Gene: SYT1

Linked Data

• ClinVar Variation Id: 431484
• ClinVar RCV Id: RCV000497062 ; RCV000721124 ; RCV000735268 ; RCV002527129
• dbSNP Id: rs1135402761
• MyVariant Identifiers: chr12:g.79842738T>C (hg19) ; chr12:g.79448958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.79448958T>C , CM000674.2:g.79448958T>C	GRCh38
NC_000012.11:g.79842738T>C , CM000674.1:g.79842738T>C	GRCh37
NC_000012.10:g.78366869T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704696.1:c.1103T>C	ENSP00000515993.1:p.Ile368Thr
ENST00000704697.1:c.*138T>C	ENSP00000515994.1:n.*138T>C
ENST00000704698.1:c.152T>C	ENSP00000515995.1:p.Ile51Thr
ENST00000704699.1:c.1094T>C	ENSP00000515996.1:p.Ile365Thr
ENST00000704700.1:c.1103T>C	ENSP00000515997.1:p.Ile368Thr
ENST00000704702.1:c.1103T>C	ENSP00000515999.1:p.Ile368Thr
ENST00000704703.1:c.938T>C	ENSP00000516000.1:p.Ile313Thr
ENST00000704704.1:c.1103T>C	ENSP00000516001.1:p.Ile368Thr
ENST00000704705.1:c.1103T>C	ENSP00000516002.1:p.Ile368Thr
ENST00000704706.1:c.1103T>C	ENSP00000516003.1:p.Ile368Thr
ENST00000704707.1:c.*1090T>C	ENSP00000516004.1:n.*1090T>C
ENST00000704708.1:c.1103T>C	ENSP00000516005.1:p.Ile368Thr
ENST00000704709.1:c.1094T>C	ENSP00000516006.1:p.Ile365Thr
ENST00000704710.1:c.1103T>C	ENSP00000516007.1:p.Ile368Thr
ENST00000704711.1:c.*1692T>C	ENSP00000516008.1:n.*1692T>C
ENST00000704714.1:c.1103T>C	ENSP00000516009.1:p.Ile368Thr
ENST00000704716.1:c.1094T>C	ENSP00000516011.1:p.Ile365Thr
ENST00000704718.1:c.1103T>C	ENSP00000516013.1:p.Ile368Thr
ENST00000261205.9:c.1103T>C MANE Select	ENSP00000261205.4:p.Ile368Thr
ENST00000261205.8:c.1103T>C	ENSP00000261205.4:p.Ile368Thr
ENST00000393240.7:c.1103T>C	ENSP00000376932.3:p.Ile368Thr
ENST00000457153.6:c.1094T>C	ENSP00000391056.2:p.Ile365Thr
ENST00000552744.5:c.1103T>C	ENSP00000447575.1:p.Ile368Thr
NM_001135805.1:c.1103T>C	NP_001129277.1:p.Ile368Thr
NM_001135806.1:c.1103T>C	NP_001129278.1:p.Ile368Thr
NM_001291901.1:c.1094T>C	NP_001278830.1:p.Ile365Thr
NM_005639.2:c.1103T>C	NP_005630.1:p.Ile368Thr
XM_005269113.2:c.1094T>C	XP_005269170.1:p.Ile365Thr
XM_006719576.1:c.1094T>C	XP_006719639.1:p.Ile365Thr
XM_011538710.1:c.1103T>C	XP_011537012.1:p.Ile368Thr
XM_005269113.3:c.1094T>C	XP_005269170.1:p.Ile365Thr
XM_011538710.2:c.1103T>C	XP_011537012.1:p.Ile368Thr
NM_005639.3:c.1103T>C MANE Select	NP_005630.1:p.Ile368Thr
NM_001135805.2:c.1103T>C	NP_001129277.1:p.Ile368Thr
NM_001135806.2:c.1103T>C	NP_001129278.1:p.Ile368Thr
NM_001291901.2:c.1094T>C	NP_001278830.1:p.Ile365Thr