Canonical Allele Identifier: CA120798

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191730C>G , CM000685.2:g.49191730C>G	GRCh38
NC_000023.10:g.49048187C>G , CM000685.1:g.49048187C>G	GRCh37
NC_000023.9:g.48935131C>G	NCBI36
NG_012532.1:g.13475G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.649G>C MANE Select	NP_003170.1:p.Gly217Arg
ENST00000263233.9:c.649G>C MANE Select	ENSP00000263233.4:p.Gly217Arg
NM_003179.2:c.649G>C	NP_003170.1:p.Gly217Arg
ENST00000263233.8:c.649G>C	ENSP00000263233.4:p.Gly217Arg
ENST00000376303.6:c.*401G>C	ENSP00000365480.2:n.*401G>C
ENST00000472598.5:c.318G>C
ENST00000479808.5:c.649G>C	ENSP00000418169.1:p.Gly217Arg
ENST00000689634.1:n.2236G>C
ENST00000692723.1:n.675G>C
XM_011543950.1:c.328G>C	XP_011542252.1:p.Gly110Arg
XM_011543951.1:c.295G>C	XP_011542253.1:p.Gly99Arg