Canonical Allele Identifier: CA362452458
Gene: SQSTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179833626G>T , CM000667.2:g.179833626G>T GRCh38
NC_000005.9:g.179260626G>T , CM000667.1:g.179260626G>T GRCh37
NC_000005.8:g.179193232G>T NCBI36
NG_011342.1:g.32239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389805.9:c.1009G>T MANE Select ENSP00000374455.4:p.Asp337Tyr
ENST00000360718.5:c.757G>T ENSP00000353944.5:p.Asp253Tyr
ENST00000389805.8:c.1009G>T ENSP00000374455.4:p.Asp337Tyr
ENST00000510187.5:c.950+399G>T ENSP00000424477.1:n.950+399G>T
NM_001142298.1:c.757G>T NP_001135770.1:p.Asp253Tyr
NM_001142299.1:c.757G>T NP_001135771.1:p.Asp253Tyr
NM_003900.4:c.1009G>T NP_003891.1:p.Asp337Tyr
XM_017010010.1:c.757G>T XP_016865499.1:p.Asp253Tyr
NM_003900.5:c.1009G>T MANE Select NP_003891.1:p.Asp337Tyr
NM_001142298.2:c.757G>T NP_001135770.1:p.Asp253Tyr
NM_001142299.2:c.757G>T NP_001135771.1:p.Asp253Tyr