Canonical Allele Identifier: CA362443823

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250983A>C (hg19) ; chr5:g.179823983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823983A>C , CM000667.2:g.179823983A>C	GRCh38
NC_000005.9:g.179250983A>C , CM000667.1:g.179250983A>C	GRCh37
NC_000005.8:g.179183589A>C	NCBI36
NG_011342.1:g.22596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.427A>C MANE Select	ENSP00000374455.4:p.Ser143Arg
ENST00000360718.5:c.175A>C	ENSP00000353944.5:p.Ser59Arg
ENST00000389805.8:c.427A>C	ENSP00000374455.4:p.Ser143Arg
ENST00000422245.5:c.175A>C	ENSP00000394534.1:p.Ser59Arg
ENST00000464493.5:n.322A>C
ENST00000466342.1:n.126A>C
ENST00000485412.1:n.419A>C
ENST00000504627.1:c.496A>C	ENSP00000425957.1:p.Ser166Arg
ENST00000508284.5:c.*149A>C	ENSP00000424195.1:n.*149A>C
ENST00000510187.5:c.427A>C	ENSP00000424477.1:p.Ser143Arg
ENST00000514093.5:c.175A>C	ENSP00000427308.1:p.Ser59Arg
NM_001142298.1:c.175A>C	NP_001135770.1:p.Ser59Arg
NM_001142299.1:c.175A>C	NP_001135771.1:p.Ser59Arg
NM_003900.4:c.427A>C	NP_003891.1:p.Ser143Arg
XM_017010010.1:c.175A>C	XP_016865499.1:p.Ser59Arg
NM_003900.5:c.427A>C MANE Select	NP_003891.1:p.Ser143Arg
NM_001142298.2:c.175A>C	NP_001135770.1:p.Ser59Arg
NM_001142299.2:c.175A>C	NP_001135771.1:p.Ser59Arg