Canonical Allele Identifier: CA2693703287

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49191309T>A , CM000685.2:g.49191309T>A	GRCh38
NC_000023.10:g.49047766T>A , CM000685.1:g.49047766T>A	GRCh37
NC_000023.9:g.48934710T>A	NCBI36
NG_012532.1:g.13896A>T
NG_017135.1:g.11A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.*4+124A>T MANE Select	NP_003170.1:n.*4+124A>T
ENST00000263233.9:c.*4+124A>T MANE Select	ENSP00000263233.4:n.*4+124A>T
NM_003179.2:c.*4+124A>T	NP_003170.1:n.*4+124A>T
ENST00000263233.8:c.*4+124A>T	ENSP00000263233.4:n.*4+124A>T
ENST00000376303.6:c.*698+124A>T	ENSP00000365480.2:n.*698+124A>T
ENST00000472598.5:c.615+124A>T
ENST00000479808.5:c.*128A>T	ENSP00000418169.1:n.*128A>T
ENST00000689634.1:n.2657A>T
ENST00000692723.1:n.972+124A>T
XM_011543950.1:c.*4+124A>T	XP_011542252.1:n.*4+124A>T
XM_011543951.1:c.*4+124A>T	XP_011542253.1:n.*4+124A>T