Canonical Allele Identifier: CA362456311
Community Standard Title: NM_003900.5(SQSTM1):c.*893C>A
Gene: MRNIP HGNC NCBI
SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179837486C>A , CM000667.2:g.179837486C>A GRCh38
NC_000005.9:g.179264486C>A , CM000667.1:g.179264486C>A GRCh37
NC_000005.8:g.179197092C>A NCBI36
NG_011342.1:g.36099C>A

Transcript Alleles

HGVS Amino-acid Change
NM_003900.5:c.*893C>A (SQSTM1) MANE Select NP_003891.1:n.*893C>A
NM_016175.4:c.937G>T (MRNIP) MANE Select NP_057259.2:p.Glu313Ter
ENST00000292586.11:c.937G>T (MRNIP) MANE Select ENSP00000292586.6:p.Glu313Ter
ENST00000389805.9:c.*893C>A (SQSTM1) MANE Select ENSP00000374455.4:n.*893C>A
NM_001017987.2:c.772G>T (MRNIP) NP_001017987.1:p.Glu258Ter
NM_001017987.3:c.772G>T (MRNIP) NP_001017987.1:p.Glu258Ter
NM_001142298.1:c.*893C>A (SQSTM1) NP_001135770.1:n.*893C>A
NM_001142298.2:c.*893C>A (SQSTM1) NP_001135770.1:n.*893C>A
NM_001142299.1:c.*893C>A (SQSTM1) NP_001135771.1:n.*893C>A
NM_001142299.2:c.*893C>A (SQSTM1) NP_001135771.1:n.*893C>A
NM_003900.4:c.*893C>A (SQSTM1) NP_003891.1:n.*893C>A
NM_016175.3:c.937G>T (MRNIP) NP_057259.2:p.Glu313Ter
ENST00000292586.10:c.937G>T (MRNIP) ENSP00000292586.6:p.Glu313Ter
ENST00000376931.6:c.772G>T (MRNIP) ENSP00000366130.2:p.Glu258Ter
ENST00000389805.8:c.*893C>A (SQSTM1) ENSP00000374455.4:n.*893C>A
ENST00000518219.5:c.*3344G>T (MRNIP) ENSP00000428460.1:n.*3344G>T
ENST00000518235.5:c.663+274G>T (MRNIP) ENSP00000430298.1:n.663+274G>T
ENST00000518950.1:n.496+274G>T (MRNIP)
ENST00000520698.5:c.498+274G>T (MRNIP) ENSP00000427849.1:n.498+274G>T
ENST00000522663.5:c.*485+274G>T (MRNIP) ENSP00000429835.1:n.*485+274G>T
ENST00000523084.5:c.535G>T (MRNIP) ENSP00000429107.1:p.Glu179Ter
ENST00000523267.1:n.529G>T (MRNIP)
ENST00000610475.4:c.382G>T (MRNIP) ENSP00000482350.1:p.Glu128Ter