Canonical Allele Identifier: CA2693585700
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47576128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576128T>C , CM000685.2:g.47576128T>C GRCh38
NC_000023.10:g.47435527T>C , CM000685.1:g.47435527T>C GRCh37
NC_000023.9:g.47320471T>C NCBI36
NG_008437.1:g.48730A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1158+3A>G MANE Select ENSP00000295987.7:n.1158+3A>G
ENST00000340666.5:c.1158+3A>G ENSP00000343206.4:n.1158+3A>G
ENST00000295987.11:c.1158+3A>G ENSP00000295987.7:n.1158+3A>G
ENST00000340666.4:c.1158+3A>G ENSP00000343206.4:n.1158+3A>G
NM_006950.3:c.1158+3A>G MANE Select NP_008881.2:n.1158+3A>G
NM_133499.2:c.1158+3A>G NP_598006.1:n.1158+3A>G