Canonical Allele Identifier: CA3601062

Gene: MRNIP SQSTM1

Linked Data

• ClinVar Variation Id: 353181
• ClinVar RCV Id: RCV000354083
• dbSNP Id: rs199887787
• ExAC: 5:179264704 G / C
• gnomAD v2: 5-179264704-G-C
• gnomAD v3: 5-179837704-G-C
• gnomAD v4: 5-179837704-G-C
• MyVariant Identifiers: chr5:g.179264704G>C (hg19) ; chr5:g.179837704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179837704G>C , CM000667.2:g.179837704G>C	GRCh38
NC_000005.9:g.179264704G>C , CM000667.1:g.179264704G>C	GRCh37
NC_000005.8:g.179197310G>C	NCBI36
NG_011342.1:g.36317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292586.11:c.719C>G (MRNIP) MANE Select	ENSP00000292586.6:p.Ser240Ter
ENST00000389805.9:c.*1111G>C (SQSTM1) MANE Select	ENSP00000374455.4:n.*1111G>C
ENST00000292586.10:c.719C>G (MRNIP)	ENSP00000292586.6:p.Ser240Ter
ENST00000376931.6:c.554C>G (MRNIP)	ENSP00000366130.2:p.Ser185Ter
ENST00000389805.8:c.*1111G>C (SQSTM1)	ENSP00000374455.4:n.*1111G>C
ENST00000518219.5:c.*3126C>G (MRNIP)	ENSP00000428460.1:n.*3126C>G
ENST00000518235.5:c.663+56C>G (MRNIP)	ENSP00000430298.1:n.663+56C>G
ENST00000518950.1:n.496+56C>G (MRNIP)
ENST00000520698.5:c.498+56C>G (MRNIP)	ENSP00000427849.1:n.498+56C>G
ENST00000521299.5:c.*394C>G (MRNIP)	ENSP00000429563.1:n.*394C>G
ENST00000521333.5:c.*36C>G (MRNIP)	ENSP00000429651.1:n.*36C>G
ENST00000522663.5:c.*485+56C>G (MRNIP)	ENSP00000429835.1:n.*485+56C>G
ENST00000523084.5:c.317C>G (MRNIP)	ENSP00000429107.1:p.Ser106Ter
ENST00000523267.1:n.311C>G (MRNIP)
ENST00000610475.4:c.164C>G (MRNIP)	ENSP00000482350.1:p.Ser55Ter
NM_001017987.2:c.554C>G (MRNIP)	NP_001017987.1:p.Ser185Ter
NM_001142298.1:c.*1111G>C (SQSTM1)	NP_001135770.1:n.*1111G>C
NM_001142299.1:c.*1111G>C (SQSTM1)	NP_001135771.1:n.*1111G>C
NM_003900.4:c.*1111G>C (SQSTM1)	NP_003891.1:n.*1111G>C
NM_016175.3:c.719C>G (MRNIP)	NP_057259.2:p.Ser240Ter
NM_003900.5:c.*1111G>C (SQSTM1) MANE Select	NP_003891.1:n.*1111G>C
NM_016175.4:c.719C>G (MRNIP) MANE Select	NP_057259.2:p.Ser240Ter
NM_001017987.3:c.554C>G (MRNIP)	NP_001017987.1:p.Ser185Ter
NM_001142298.2:c.*1111G>C (SQSTM1)	NP_001135770.1:n.*1111G>C
NM_001142299.2:c.*1111G>C (SQSTM1)	NP_001135771.1:n.*1111G>C