Canonical Allele Identifier: CA2693703291

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191319A>T , CM000685.2:g.49191319A>T	GRCh38
NC_000023.10:g.49047776A>T , CM000685.1:g.49047776A>T	GRCh37
NC_000023.9:g.48934720A>T	NCBI36
NG_012532.1:g.13886T>A
NG_017135.1:g.1T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.*4+114T>A MANE Select	NP_003170.1:n.*4+114T>A
ENST00000263233.9:c.*4+114T>A MANE Select	ENSP00000263233.4:n.*4+114T>A
NM_003179.2:c.*4+114T>A	NP_003170.1:n.*4+114T>A
ENST00000263233.8:c.*4+114T>A	ENSP00000263233.4:n.*4+114T>A
ENST00000376303.6:c.*698+114T>A	ENSP00000365480.2:n.*698+114T>A
ENST00000472598.5:c.615+114T>A
ENST00000479808.5:c.*118T>A	ENSP00000418169.1:n.*118T>A
ENST00000689634.1:n.2647T>A
ENST00000692723.1:n.972+114T>A
XM_011543950.1:c.*4+114T>A	XP_011542252.1:n.*4+114T>A
XM_011543951.1:c.*4+114T>A	XP_011542253.1:n.*4+114T>A