Canonical Allele Identifier: CA5668002
Community Standard Title: NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
Gene: SUFU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102630088G>A , CM000672.2:g.102630088G>A GRCh38
NC_000010.10:g.104389845G>A , CM000672.1:g.104389845G>A GRCh37
NC_000010.9:g.104379835G>A NCBI36
NG_021338.1:g.131127G>A , LRG_521:g.131127G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016169.4:c.1388G>A MANE Select NP_057253.2:p.Ser463Asn
ENST00000369902.8:c.1388G>A MANE Select ENSP00000358918.4:p.Ser463Asn
NM_016169.3:c.1388G>A , LRG_521t1:c.1388G>A NP_057253.2:p.Ser463Asn
ENST00000369902.7:c.1388G>A ENSP00000358918.3:p.Ser463Asn
XM_011539858.1:c.1517G>A XP_011538160.1:p.Ser506Asn
XM_011539858.3:c.1517G>A XP_011538160.1:p.Ser506Asn
XM_011539859.1:c.1517G>A XP_011538161.1:p.Ser506Asn
XM_011539860.1:c.1514G>A XP_011538162.1:p.Ser505Asn
XM_011539860.3:c.1514G>A XP_011538162.1:p.Ser505Asn
XM_011539861.1:c.1391G>A XP_011538163.1:p.Ser464Asn
XM_011539861.3:c.1391G>A XP_011538163.1:p.Ser464Asn
XM_011539862.1:c.1439G>A XP_011538164.1:p.Ser480Asn
XM_011539863.1:c.1343G>A XP_011538165.1:p.Ser448Asn
XM_011539863.3:c.1343G>A XP_011538165.1:p.Ser448Asn
XM_017016323.1:c.1439G>A XP_016871812.1:p.Ser480Asn