Canonical Allele Identifier: CA3600612

Gene: SQSTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179825146C>T , CM000667.2:g.179825146C>T	GRCh38
NC_000005.9:g.179252146C>T , CM000667.1:g.179252146C>T	GRCh37
NC_000005.8:g.179184752C>T	NCBI36
NG_011342.1:g.23759C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.674C>T MANE Select	NP_003891.1:p.Ala225Val
ENST00000389805.9:c.674C>T MANE Select	ENSP00000374455.4:p.Ala225Val
NM_001142298.1:c.422C>T	NP_001135770.1:p.Ala141Val
NM_001142298.2:c.422C>T	NP_001135770.1:p.Ala141Val
NM_001142299.1:c.422C>T	NP_001135771.1:p.Ala141Val
NM_001142299.2:c.422C>T	NP_001135771.1:p.Ala141Val
NM_003900.4:c.674C>T	NP_003891.1:p.Ala225Val
ENST00000360718.5:c.422C>T	ENSP00000353944.5:p.Ala141Val
ENST00000389805.8:c.674C>T	ENSP00000374455.4:p.Ala225Val
ENST00000466342.1:n.373C>T
ENST00000510187.5:c.674C>T	ENSP00000424477.1:p.Ala225Val
ENST00000514093.5:c.422C>T	ENSP00000427308.1:p.Ala141Val
XM_017010010.1:c.422C>T	XP_016865499.1:p.Ala141Val