Canonical Allele Identifier: CA10624435

Gene: MRNIP SQSTM1

Linked Data

• ClinVar Variation Id: 353188
• ClinVar RCV Id: RCV000269014
• dbSNP Id: rs886060510
• gnomAD v2: 5-179265073-C-T
• gnomAD v3: 5-179838073-C-T
• gnomAD v4: 5-179838073-C-T
• COSMIC: COSN21767558 ; COSN24027464
• MyVariant Identifiers: chr5:g.179265073C>T (hg19) ; chr5:g.179838073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179838073C>T , CM000667.2:g.179838073C>T	GRCh38
NC_000005.9:g.179265073C>T , CM000667.1:g.179265073C>T	GRCh37
NC_000005.8:g.179197679C>T	NCBI36
NG_011342.1:g.36686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292586.11:c.538-188G>A (MRNIP) MANE Select	ENSP00000292586.6:n.538-188G>A
ENST00000389805.9:c.*1480C>T (SQSTM1) MANE Select	ENSP00000374455.4:n.*1480C>T
ENST00000292586.10:c.538-188G>A (MRNIP)	ENSP00000292586.6:n.538-188G>A
ENST00000376931.6:c.373-188G>A (MRNIP)	ENSP00000366130.2:n.373-188G>A
ENST00000389805.8:c.*1480C>T (SQSTM1)	ENSP00000374455.4:n.*1480C>T
ENST00000518219.5:c.*2757G>A (MRNIP)	ENSP00000428460.1:n.*2757G>A
ENST00000518235.5:c.538-188G>A (MRNIP)	ENSP00000430298.1:n.538-188G>A
ENST00000518950.1:n.183G>A (MRNIP)
ENST00000520698.5:c.373-188G>A (MRNIP)	ENSP00000427849.1:n.373-188G>A
ENST00000521299.5:c.*213-188G>A (MRNIP)	ENSP00000429563.1:n.*213-188G>A
ENST00000521333.5:c.271-262G>A (MRNIP)	ENSP00000429651.1:n.271-262G>A
ENST00000522663.5:c.*360-188G>A (MRNIP)	ENSP00000429835.1:n.*360-188G>A
ENST00000523084.5:c.136-188G>A (MRNIP)	ENSP00000429107.1:n.136-188G>A
ENST00000523267.1:n.136-194G>A (MRNIP)
ENST00000610475.4:c.-17-188G>A (MRNIP)	ENSP00000482350.1:n.-17-188G>A
NM_001017987.2:c.373-188G>A (MRNIP)	NP_001017987.1:n.373-188G>A
NM_001142298.1:c.*1480C>T (SQSTM1)	NP_001135770.1:n.*1480C>T
NM_001142299.1:c.*1480C>T (SQSTM1)	NP_001135771.1:n.*1480C>T
NM_003900.4:c.*1480C>T (SQSTM1)	NP_003891.1:n.*1480C>T
NM_016175.3:c.538-188G>A (MRNIP)	NP_057259.2:n.538-188G>A
NM_003900.5:c.*1480C>T (SQSTM1) MANE Select	NP_003891.1:n.*1480C>T
NM_016175.4:c.538-188G>A (MRNIP) MANE Select	NP_057259.2:n.538-188G>A
NM_001017987.3:c.373-188G>A (MRNIP)	NP_001017987.1:n.373-188G>A
NM_001142298.2:c.*1480C>T (SQSTM1)	NP_001135770.1:n.*1480C>T
NM_001142299.2:c.*1480C>T (SQSTM1)	NP_001135771.1:n.*1480C>T