Canonical Allele Identifier: CA362443356

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250863A>C (hg19) ; chr5:g.179823863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823863A>C , CM000667.2:g.179823863A>C	GRCh38
NC_000005.9:g.179250863A>C , CM000667.1:g.179250863A>C	GRCh37
NC_000005.8:g.179183469A>C	NCBI36
NG_011342.1:g.22476A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.307A>C MANE Select	ENSP00000374455.4:p.Lys103Gln
ENST00000360718.5:c.55A>C	ENSP00000353944.5:p.Lys19Gln
ENST00000389805.8:c.307A>C	ENSP00000374455.4:p.Lys103Gln
ENST00000422245.5:c.55A>C	ENSP00000394534.1:p.Lys19Gln
ENST00000453046.5:c.*242A>C	ENSP00000405061.1:n.*242A>C
ENST00000464493.5:n.202A>C
ENST00000466342.1:n.6A>C
ENST00000481335.5:n.457A>C
ENST00000485412.1:n.299A>C
ENST00000504627.1:c.376A>C	ENSP00000425957.1:p.Lys126Gln
ENST00000508284.5:c.*29A>C	ENSP00000424195.1:n.*29A>C
ENST00000510187.5:c.307A>C	ENSP00000424477.1:p.Lys103Gln
ENST00000514093.5:c.55A>C	ENSP00000427308.1:p.Lys19Gln
NM_001142298.1:c.55A>C	NP_001135770.1:p.Lys19Gln
NM_001142299.1:c.55A>C	NP_001135771.1:p.Lys19Gln
NM_003900.4:c.307A>C	NP_003891.1:p.Lys103Gln
XM_017010010.1:c.55A>C	XP_016865499.1:p.Lys19Gln
NM_003900.5:c.307A>C MANE Select	NP_003891.1:p.Lys103Gln
NM_001142298.2:c.55A>C	NP_001135770.1:p.Lys19Gln
NM_001142299.2:c.55A>C	NP_001135771.1:p.Lys19Gln