Canonical Allele Identifier: CA515990905
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432272G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572873G>A , CM000685.2:g.47572873G>A GRCh38
NC_000023.10:g.47432272G>A , CM000685.1:g.47432272G>A GRCh37
NC_000023.9:g.47317216G>A NCBI36
NG_008437.1:g.51985C>T
NG_016339.1:g.16757G>A
NG_016339.2:g.16757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2109C>T MANE Select ENSP00000295987.7:p.Phe703=
ENST00000340666.5:c.*61C>T ENSP00000343206.4:n.*61C>T
ENST00000640721.1:c.159C>T ENSP00000492857.1:p.Phe53=
ENST00000295987.11:c.2109C>T ENSP00000295987.7:p.Phe703=
ENST00000340666.4:c.*61C>T ENSP00000343206.4:n.*61C>T
NM_006950.3:c.2109C>T MANE Select NP_008881.2:p.Phe703=
NM_133499.2:c.*61C>T NP_598006.1:n.*61C>T
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