Canonical Allele Identifier: CA2573131767
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067772
ClinVar RCV Id: RCV001379126
dbSNP Id: rs2147912005
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574045_47574051dup , CM000685.2:g.47574045_47574051dup GRCh38
NC_000023.10:g.47433444_47433450dup , CM000685.1:g.47433444_47433450dup GRCh37
NC_000023.9:g.47318388_47318394dup NCBI36
NG_008437.1:g.50815_50821dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1941_1947dup MANE Select ENSP00000295987.7:p.Ala650ArgfsTer?
ENST00000340666.5:c.1941_1947dup ENSP00000343206.4:p.Ala650ArgfsTer28
ENST00000640721.1:c.70+645_70+651dup ENSP00000492857.1:n.70+645_70+651dup
ENST00000295987.11:c.1941_1947dup ENSP00000295987.7:p.Ala650ArgfsTer?
ENST00000340666.4:c.1941_1947dup ENSP00000343206.4:p.Ala650ArgfsTer28
NM_006950.3:c.1941_1947dup MANE Select NP_008881.2:p.Ala650ArgfsTer?
NM_133499.2:c.1941_1947dup NP_598006.1:p.Ala650ArgfsTer28
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