Canonical Allele Identifier: CA412823730
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574506-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574506A>G , CM000685.2:g.47574506A>G GRCh38
NC_000023.10:g.47433905A>G , CM000685.1:g.47433905A>G GRCh37
NC_000023.9:g.47318849A>G NCBI36
NG_008437.1:g.50352T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1478T>C MANE Select ENSP00000295987.7:p.Leu493Pro
ENST00000340666.5:c.1478T>C ENSP00000343206.4:p.Leu493Pro
ENST00000640721.1:c.70+182T>C ENSP00000492857.1:n.70+182T>C
ENST00000295987.11:c.1478T>C ENSP00000295987.7:p.Leu493Pro
ENST00000340666.4:c.1478T>C ENSP00000343206.4:p.Leu493Pro
NM_006950.3:c.1478T>C MANE Select NP_008881.2:p.Leu493Pro
NM_133499.2:c.1478T>C NP_598006.1:p.Leu493Pro