Canonical Allele Identifier: CA412953859

Gene: SYP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49194284G>A , CM000685.2:g.49194284G>A	GRCh38
NC_000023.10:g.49050741G>A , CM000685.1:g.49050741G>A	GRCh37
NC_000023.9:g.48937685G>A	NCBI36
NG_012532.1:g.10921C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003179.3:c.305C>T MANE Select	NP_003170.1:p.Ser102Leu
ENST00000263233.9:c.305C>T MANE Select	ENSP00000263233.4:p.Ser102Leu
NM_003179.2:c.305C>T	NP_003170.1:p.Ser102Leu
ENST00000263233.8:c.305C>T	ENSP00000263233.4:p.Ser102Leu
ENST00000376303.6:c.*57C>T	ENSP00000365480.2:n.*57C>T
ENST00000469389.5:c.*124C>T	ENSP00000418987.1:n.*124C>T
ENST00000472598.5:c.93-821C>T
ENST00000479808.5:c.305C>T	ENSP00000418169.1:p.Ser102Leu
ENST00000689634.1:n.384C>T
ENST00000691258.1:n.337C>T
ENST00000692723.1:n.331C>T
XM_011543950.1:c.103-821C>T	XP_011542252.1:n.103-821C>T
XM_011543951.1:c.-50C>T	XP_011542253.1:n.-50C>T