Canonical Allele Identifier: CA362443801

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250979G>T (hg19) ; chr5:g.179823979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823979G>T , CM000667.2:g.179823979G>T	GRCh38
NC_000005.9:g.179250979G>T , CM000667.1:g.179250979G>T	GRCh37
NC_000005.8:g.179183585G>T	NCBI36
NG_011342.1:g.22592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.423G>T MANE Select	ENSP00000374455.4:p.Lys141Asn
ENST00000360718.5:c.171G>T	ENSP00000353944.5:p.Lys57Asn
ENST00000389805.8:c.423G>T	ENSP00000374455.4:p.Lys141Asn
ENST00000422245.5:c.171G>T	ENSP00000394534.1:p.Lys57Asn
ENST00000464493.5:n.318G>T
ENST00000466342.1:n.122G>T
ENST00000485412.1:n.415G>T
ENST00000504627.1:c.492G>T	ENSP00000425957.1:p.Lys164Asn
ENST00000508284.5:c.*145G>T	ENSP00000424195.1:n.*145G>T
ENST00000510187.5:c.423G>T	ENSP00000424477.1:p.Lys141Asn
ENST00000514093.5:c.171G>T	ENSP00000427308.1:p.Lys57Asn
NM_001142298.1:c.171G>T	NP_001135770.1:p.Lys57Asn
NM_001142299.1:c.171G>T	NP_001135771.1:p.Lys57Asn
NM_003900.4:c.423G>T	NP_003891.1:p.Lys141Asn
XM_017010010.1:c.171G>T	XP_016865499.1:p.Lys57Asn
NM_003900.5:c.423G>T MANE Select	NP_003891.1:p.Lys141Asn
NM_001142298.2:c.171G>T	NP_001135770.1:p.Lys57Asn
NM_001142299.2:c.171G>T	NP_001135771.1:p.Lys57Asn