Canonical Allele Identifier: CA329056867

Gene: SYN1

Linked Data

• dbSNP Id: rs1053077765
• gnomAD v2: X-47432524-T-G
• gnomAD v3: X-47573125-T-G
• gnomAD v4: X-47573125-T-G
• MyVariant Identifiers: chrX:g.47432524T>G (hg19) ; chrX:g.47573125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573125T>G , CM000685.2:g.47573125T>G	GRCh38
NC_000023.10:g.47432524T>G , CM000685.1:g.47432524T>G	GRCh37
NC_000023.9:g.47317468T>G	NCBI36
NG_008437.1:g.51733A>C
NG_016339.1:g.17009T>G
NG_016339.2:g.17009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-126A>C MANE Select	ENSP00000295987.7:n.1983-126A>C
ENST00000340666.5:c.1983-164A>C	ENSP00000343206.4:n.1983-164A>C
ENST00000640721.1:c.71-164A>C	ENSP00000492857.1:n.71-164A>C
ENST00000295987.11:c.1983-126A>C	ENSP00000295987.7:n.1983-126A>C
ENST00000340666.4:c.1983-164A>C	ENSP00000343206.4:n.1983-164A>C
NM_006950.3:c.1983-126A>C MANE Select	NP_008881.2:n.1983-126A>C
NM_133499.2:c.1983-164A>C	NP_598006.1:n.1983-164A>C