Canonical Allele Identifier: CA362453565
Community Standard Title: NM_003900.5(SQSTM1):c.1166-2A>G
Gene: SQSTM1 HGNC NCBI
MRNIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179836434A>G , CM000667.2:g.179836434A>G GRCh38
NC_000005.9:g.179263434A>G , CM000667.1:g.179263434A>G GRCh37
NC_000005.8:g.179196040A>G NCBI36
NG_011342.1:g.35047A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003900.5:c.1166-2A>G (SQSTM1) MANE Select NP_003891.1:n.1166-2A>G
ENST00000389805.9:c.1166-2A>G (SQSTM1) MANE Select ENSP00000374455.4:n.1166-2A>G
NM_001142298.1:c.914-2A>G (SQSTM1) NP_001135770.1:n.914-2A>G
NM_001142298.2:c.914-2A>G (SQSTM1) NP_001135770.1:n.914-2A>G
NM_001142299.1:c.914-2A>G (SQSTM1) NP_001135771.1:n.914-2A>G
NM_001142299.2:c.914-2A>G (SQSTM1) NP_001135771.1:n.914-2A>G
NM_003900.4:c.1166-2A>G (SQSTM1) NP_003891.1:n.1166-2A>G
ENST00000360718.5:c.914-2A>G (SQSTM1) ENSP00000353944.5:n.914-2A>G
ENST00000389805.8:c.1166-2A>G (SQSTM1) ENSP00000374455.4:n.1166-2A>G
ENST00000510187.5:c.951-37A>G (SQSTM1) ENSP00000424477.1:n.951-37A>G
ENST00000522663.5:c.*1256T>C (MRNIP) ENSP00000429835.1:n.*1256T>C
XM_017010010.1:c.914-2A>G (SQSTM1) XP_016865499.1:n.914-2A>G