Canonical Allele Identifier: CA362443933

Gene: SQSTM1

Linked Data

• MyVariant Identifiers: chr5:g.179250999A>T (hg19) ; chr5:g.179823999A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179823999A>T , CM000667.2:g.179823999A>T	GRCh38
NC_000005.9:g.179250999A>T , CM000667.1:g.179250999A>T	GRCh37
NC_000005.8:g.179183605A>T	NCBI36
NG_011342.1:g.22612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389805.9:c.443A>T MANE Select	ENSP00000374455.4:p.Tyr148Phe
ENST00000360718.5:c.191A>T	ENSP00000353944.5:p.Tyr64Phe
ENST00000389805.8:c.443A>T	ENSP00000374455.4:p.Tyr148Phe
ENST00000422245.5:c.191A>T	ENSP00000394534.1:p.Tyr64Phe
ENST00000464493.5:n.338A>T
ENST00000466342.1:n.142A>T
ENST00000485412.1:n.435A>T
ENST00000504627.1:c.512A>T	ENSP00000425957.1:p.Tyr171Phe
ENST00000508284.5:c.*165A>T	ENSP00000424195.1:n.*165A>T
ENST00000510187.5:c.443A>T	ENSP00000424477.1:p.Tyr148Phe
ENST00000514093.5:c.191A>T	ENSP00000427308.1:p.Tyr64Phe
NM_001142298.1:c.191A>T	NP_001135770.1:p.Tyr64Phe
NM_001142299.1:c.191A>T	NP_001135771.1:p.Tyr64Phe
NM_003900.4:c.443A>T	NP_003891.1:p.Tyr148Phe
XM_017010010.1:c.191A>T	XP_016865499.1:p.Tyr64Phe
NM_003900.5:c.443A>T MANE Select	NP_003891.1:p.Tyr148Phe
NM_001142298.2:c.191A>T	NP_001135770.1:p.Tyr64Phe
NM_001142299.2:c.191A>T	NP_001135771.1:p.Tyr64Phe