Canonical Allele Identifier: CA2428531417

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191323G>A , CM000685.2:g.49191323G>A	GRCh38
NC_000023.10:g.49047780G>A , CM000685.1:g.49047780G>A	GRCh37
NC_000023.9:g.48934724G>A	NCBI36
NG_012532.1:g.13882C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.*4+110C>T MANE Select	NP_003170.1:n.*4+110C>T
ENST00000263233.9:c.*4+110C>T MANE Select	ENSP00000263233.4:n.*4+110C>T
NM_003179.2:c.*4+110C>T	NP_003170.1:n.*4+110C>T
ENST00000263233.8:c.*4+110C>T	ENSP00000263233.4:n.*4+110C>T
ENST00000376303.6:c.*698+110C>T	ENSP00000365480.2:n.*698+110C>T
ENST00000472598.5:c.615+110C>T
ENST00000479808.5:c.*114C>T	ENSP00000418169.1:n.*114C>T
ENST00000689634.1:n.2643C>T
ENST00000692723.1:n.972+110C>T
XM_011543950.1:c.*4+110C>T	XP_011542252.1:n.*4+110C>T
XM_011543951.1:c.*4+110C>T	XP_011542253.1:n.*4+110C>T