Canonical Allele Identifier: CA362443605

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250935A>T (hg19) ; chr5:g.179823935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823935A>T , CM000667.2:g.179823935A>T	GRCh38
NC_000005.9:g.179250935A>T , CM000667.1:g.179250935A>T	GRCh37
NC_000005.8:g.179183541A>T	NCBI36
NG_011342.1:g.22548A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.379A>T MANE Select	ENSP00000374455.4:p.Ile127Phe
ENST00000360718.5:c.127A>T	ENSP00000353944.5:p.Ile43Phe
ENST00000389805.8:c.379A>T	ENSP00000374455.4:p.Ile127Phe
ENST00000422245.5:c.127A>T	ENSP00000394534.1:p.Ile43Phe
ENST00000453046.5:c.*314A>T	ENSP00000405061.1:n.*314A>T
ENST00000464493.5:n.274A>T
ENST00000466342.1:n.78A>T
ENST00000481335.5:n.529A>T
ENST00000485412.1:n.371A>T
ENST00000504627.1:c.448A>T	ENSP00000425957.1:p.Ile150Phe
ENST00000508284.5:c.*101A>T	ENSP00000424195.1:n.*101A>T
ENST00000510187.5:c.379A>T	ENSP00000424477.1:p.Ile127Phe
ENST00000514093.5:c.127A>T	ENSP00000427308.1:p.Ile43Phe
NM_001142298.1:c.127A>T	NP_001135770.1:p.Ile43Phe
NM_001142299.1:c.127A>T	NP_001135771.1:p.Ile43Phe
NM_003900.4:c.379A>T	NP_003891.1:p.Ile127Phe
XM_017010010.1:c.127A>T	XP_016865499.1:p.Ile43Phe
NM_003900.5:c.379A>T MANE Select	NP_003891.1:p.Ile127Phe
NM_001142298.2:c.127A>T	NP_001135770.1:p.Ile43Phe
NM_001142299.2:c.127A>T	NP_001135771.1:p.Ile43Phe