Canonical Allele Identifier: CA412820550

Gene: SYN1

Linked Data

• MyVariant Identifiers: chrX:g.47432342G>A (hg19) ; chrX:g.47572943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572943G>A , CM000685.2:g.47572943G>A	GRCh38
NC_000023.10:g.47432342G>A , CM000685.1:g.47432342G>A	GRCh37
NC_000023.9:g.47317286G>A	NCBI36
NG_008437.1:g.51915C>T
NG_016339.1:g.16827G>A
NG_016339.2:g.16827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.2039C>T MANE Select	ENSP00000295987.7:p.Pro680Leu
ENST00000340666.5:c.2001C>T	ENSP00000343206.4:p.Ala667=
ENST00000640721.1:c.89C>T	ENSP00000492857.1:p.Pro30Leu
ENST00000295987.11:c.2039C>T	ENSP00000295987.7:p.Pro680Leu
ENST00000340666.4:c.2001C>T	ENSP00000343206.4:p.Ala667=
NM_006950.3:c.2039C>T MANE Select	NP_008881.2:p.Pro680Leu
NM_133499.2:c.2001C>T	NP_598006.1:p.Ala667=