Canonical Allele Identifier: CA553252551

Gene: SNCA

Linked Data

• ClinVar Variation Id: 2654945
• ClinVar RCV Id: RCV003439414
• dbSNP Id: rs5860180
• gnomAD v2: 4-90646501-A-AAG
• gnomAD v3: 4-89725350-A-AAG
• gnomAD v4: 4-89725350-A-AAG
• MyVariant Identifiers: chr4:g.90646505_90646506insAG (hg19) ; chr4:g.90646501_90646502insAG (hg19) ; chr4:g.89725354_89725355insAG (hg38) ; chr4:g.89725350_89725351insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725368_89725369dup , CM000666.2:g.89725368_89725369dup	GRCh38
NC_000004.11:g.90646519_90646520dup , CM000666.1:g.90646519_90646520dup	GRCh37
NC_000004.10:g.90865542_90865543dup	NCBI36
NG_011851.1:g.117945_117946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.*1276_*1277dup MANE Select	ENSP00000378442.4:n.*1276_*1277dup
ENST00000673718.1:c.*1276_*1277dup	ENSP00000500990.1:n.*1276_*1277dup
ENST00000673766.1:n.1954_1955dup
ENST00000673902.1:c.390+3842_390+3843dup	ENSP00000501102.1:n.390+3842_390+3843dup
ENST00000674129.1:c.*1276_*1277dup	ENSP00000501269.1:n.*1276_*1277dup
ENST00000336904.7:c.*1276_*1277dup	ENSP00000338345.3:n.*1276_*1277dup
ENST00000394989.6:c.*1276_*1277dup	ENSP00000378440.2:n.*1276_*1277dup
ENST00000420646.6:c.*1276_*1277dup	ENSP00000396241.2:n.*1276_*1277dup
ENST00000618500.4:c.*1276_*1277dup	ENSP00000484044.1:n.*1276_*1277dup
NM_000345.3:c.*1276_*1277dup	NP_000336.1:n.*1276_*1277dup
NM_001146054.1:c.*1276_*1277dup	NP_001139526.1:n.*1276_*1277dup
NM_001146055.1:c.*1276_*1277dup	NP_001139527.1:n.*1276_*1277dup
NM_007308.2:c.*1276_*1277dup	NP_009292.1:n.*1276_*1277dup
NM_000345.4:c.*1276_*1277dup MANE Select	NP_000336.1:n.*1276_*1277dup
NM_001146054.2:c.*1276_*1277dup	NP_001139526.1:n.*1276_*1277dup
NM_001146055.2:c.*1276_*1277dup	NP_001139527.1:n.*1276_*1277dup
NM_001375285.1:c.*1276_*1277dup	NP_001362214.1:n.*1276_*1277dup
NM_001375286.1:c.*1276_*1277dup	NP_001362215.1:n.*1276_*1277dup
NM_001375287.1:c.*1276_*1277dup	NP_001362216.1:n.*1276_*1277dup
NM_001375288.1:c.*1276_*1277dup	NP_001362217.1:n.*1276_*1277dup
NM_001375290.1:c.*1276_*1277dup	NP_001362219.1:n.*1276_*1277dup
NR_164674.1:n.1277-38_1277-37dup
NR_164675.1:n.1424-38_1424-37dup
NR_164676.1:n.1997_1998dup
NM_007308.3:c.*1276_*1277dup	NP_009292.1:n.*1276_*1277dup