Canonical Allele Identifier: CA2693584101

Gene: SYN1

Linked Data

• gnomAD v4: X-47573148-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573148G>A , CM000685.2:g.47573148G>A	GRCh38
NC_000023.10:g.47432547G>A , CM000685.1:g.47432547G>A	GRCh37
NC_000023.9:g.47317491G>A	NCBI36
NG_008437.1:g.51710C>T
NG_016339.1:g.17032G>A
NG_016339.2:g.17032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-149C>T MANE Select	ENSP00000295987.7:n.1983-149C>T
ENST00000340666.5:c.1983-187C>T	ENSP00000343206.4:n.1983-187C>T
ENST00000640721.1:c.71-187C>T	ENSP00000492857.1:n.71-187C>T
ENST00000295987.11:c.1983-149C>T	ENSP00000295987.7:n.1983-149C>T
ENST00000340666.4:c.1983-187C>T	ENSP00000343206.4:n.1983-187C>T
NM_006950.3:c.1983-149C>T MANE Select	NP_008881.2:n.1983-149C>T
NM_133499.2:c.1983-187C>T	NP_598006.1:n.1983-187C>T