Canonical Allele Identifier: CA10618604
Gene: SNCA HGNC NCBI

Linked Data

ClinVar Variation Id: 350074
ClinVar RCV Id: RCV000369860
dbSNP Id: rs1553905607

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89725318_89725320dup , CM000666.2:g.89725318_89725320dup GRCh38
NC_000004.11:g.90646469_90646471dup , CM000666.1:g.90646469_90646471dup GRCh37
NC_000004.10:g.90865492_90865494dup NCBI36
NG_011851.1:g.117977_117979dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000394991.8:c.*1308_*1310dup MANE Select ENSP00000378442.4:n.*1308_*1310dup
ENST00000673718.1:c.*1308_*1310dup ENSP00000500990.1:n.*1308_*1310dup
ENST00000673766.1:n.1986_1988dup
ENST00000673902.1:c.390+3874_390+3876dup ENSP00000501102.1:n.390+3874_390+3876dup
ENST00000336904.7:c.*1308_*1310dup ENSP00000338345.3:n.*1308_*1310dup
ENST00000394989.6:c.*1308_*1310dup ENSP00000378440.2:n.*1308_*1310dup
ENST00000420646.6:c.*1308_*1310dup ENSP00000396241.2:n.*1308_*1310dup
ENST00000618500.4:c.*1308_*1310dup ENSP00000484044.1:n.*1308_*1310dup
NM_000345.3:c.*1308_*1310dup NP_000336.1:n.*1308_*1310dup
NM_001146054.1:c.*1308_*1310dup NP_001139526.1:n.*1308_*1310dup
NM_001146055.1:c.*1308_*1310dup NP_001139527.1:n.*1308_*1310dup
NM_007308.2:c.*1308_*1310dup NP_009292.1:n.*1308_*1310dup
NM_000345.4:c.*1308_*1310dup MANE Select NP_000336.1:n.*1308_*1310dup
NM_001146054.2:c.*1308_*1310dup NP_001139526.1:n.*1308_*1310dup
NM_001146055.2:c.*1308_*1310dup NP_001139527.1:n.*1308_*1310dup
NM_001375285.1:c.*1308_*1310dup NP_001362214.1:n.*1308_*1310dup
NM_001375286.1:c.*1308_*1310dup NP_001362215.1:n.*1308_*1310dup
NM_001375287.1:c.*1308_*1310dup NP_001362216.1:n.*1308_*1310dup
NM_001375288.1:c.*1308_*1310dup NP_001362217.1:n.*1308_*1310dup
NM_001375290.1:c.*1308_*1310dup NP_001362219.1:n.*1308_*1310dup
NR_164674.1:n.1277-6_1277-4dup
NR_164675.1:n.1424-6_1424-4dup
NR_164676.1:n.2029_2031dup
NM_007308.3:c.*1308_*1310dup NP_009292.1:n.*1308_*1310dup