Canonical Allele Identifier: CA875955128

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191308C>G , CM000685.2:g.49191308C>G	GRCh38
NC_000023.10:g.49047765C>G , CM000685.1:g.49047765C>G	GRCh37
NC_000023.9:g.48934709C>G	NCBI36
NG_012532.1:g.13897G>C
NG_017135.1:g.12G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.*4+125G>C MANE Select	NP_003170.1:n.*4+125G>C
ENST00000263233.9:c.*4+125G>C MANE Select	ENSP00000263233.4:n.*4+125G>C
NM_003179.2:c.*4+125G>C	NP_003170.1:n.*4+125G>C
ENST00000263233.8:c.*4+125G>C	ENSP00000263233.4:n.*4+125G>C
ENST00000376303.6:c.*698+125G>C	ENSP00000365480.2:n.*698+125G>C
ENST00000472598.5:c.615+125G>C
ENST00000479808.5:c.*129G>C	ENSP00000418169.1:n.*129G>C
ENST00000689634.1:n.2658G>C
ENST00000692723.1:n.972+125G>C
XM_011543950.1:c.*4+125G>C	XP_011542252.1:n.*4+125G>C
XM_011543951.1:c.*4+125G>C	XP_011542253.1:n.*4+125G>C