Canonical Allele Identifier: CA412820238
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432271A>G (hg19) chrX:g.47572872A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572872A>G , CM000685.2:g.47572872A>G GRCh38
NC_000023.10:g.47432271A>G , CM000685.1:g.47432271A>G GRCh37
NC_000023.9:g.47317215A>G NCBI36
NG_008437.1:g.51986T>C
NG_016339.1:g.16756A>G
NG_016339.2:g.16756A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2110T>C MANE Select ENSP00000295987.7:p.Ser704Pro
ENST00000340666.5:c.*62T>C ENSP00000343206.4:n.*62T>C
ENST00000640721.1:c.160T>C ENSP00000492857.1:p.Ser54Pro
ENST00000295987.11:c.2110T>C ENSP00000295987.7:p.Ser704Pro
ENST00000340666.4:c.*62T>C ENSP00000343206.4:n.*62T>C
NM_006950.3:c.2110T>C MANE Select NP_008881.2:p.Ser704Pro
NM_133499.2:c.*62T>C NP_598006.1:n.*62T>C
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