Canonical Allele Identifier: CA4428349

Gene: SYPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.106092999G>C , CM000669.2:g.106092999G>C	GRCh38
NC_000007.13:g.105733445G>C , CM000669.1:g.105733445G>C	GRCh37
NC_000007.12:g.105520681G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182715.4:c.541C>G MANE Select	NP_874384.1:p.Leu181Val
ENST00000455385.7:c.541C>G MANE Select	ENSP00000388336.2:p.Leu181Val
NM_001381910.1:c.673C>G	NP_001368839.1:p.Leu225Val
NM_001381911.1:c.619C>G	NP_001368840.1:p.Leu207Val
NM_001381912.1:c.529C>G	NP_001368841.1:p.Leu177Val
NM_001381913.1:c.457-1060C>G	NP_001368842.1:n.457-1060C>G
NM_001381915.1:c.208C>G	NP_001368844.1:p.Leu70Val
NM_001381916.1:c.208C>G	NP_001368845.1:p.Leu70Val
NM_001381917.1:c.145C>G	NP_001368846.1:p.Leu49Val
NM_001381918.1:c.595C>G	NP_001368847.1:p.Leu199Val
NM_001381919.1:c.595C>G	NP_001368848.1:p.Leu199Val
NM_001381920.1:c.541C>G	NP_001368849.1:p.Leu181Val
NM_001381921.1:c.541C>G	NP_001368850.1:p.Leu181Val
NM_006754.3:c.595C>G	NP_006745.1:p.Leu199Val
NM_006754.4:c.595C>G	NP_006745.1:p.Leu199Val
NM_006754.5:c.595C>G	NP_006745.1:p.Leu199Val
NM_182715.2:c.541C>G	NP_874384.1:p.Leu181Val
NM_182715.3:c.541C>G	NP_874384.1:p.Leu181Val
NR_167729.1:n.569C>G
NR_167730.1:n.779C>G
ENST00000011473.6:c.595C>G	ENSP00000011473.2:p.Leu199Val
ENST00000455385.6:c.541C>G	ENSP00000388336.2:p.Leu181Val
ENST00000460770.1:n.254C>G
ENST00000464029.5:c.312C>G
ENST00000470347.1:c.541C>G	ENSP00000419070.1:p.Leu181Val
ENST00000634737.1:c.485C>G	ENSP00000489167.1:n.485C>G
ENST00000706297.1:c.*96C>G	ENSP00000516338.1:n.*96C>G
ENST00000706298.1:c.595C>G	ENSP00000516339.1:p.Leu199Val
ENST00000706299.1:c.673C>G	ENSP00000516340.1:p.Leu225Val
XM_006716099.1:c.595C>G	XP_006716162.1:p.Leu199Val