Canonical Allele Identifier: CA3600860

Gene: SQSTM1 MRNIP

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179836477T>A , CM000667.2:g.179836477T>A	GRCh38
NC_000005.9:g.179263477T>A , CM000667.1:g.179263477T>A	GRCh37
NC_000005.8:g.179196083T>A	NCBI36
NG_011342.1:g.35090T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.1207T>A (SQSTM1) MANE Select	NP_003891.1:p.Ser403Thr
ENST00000389805.9:c.1207T>A (SQSTM1) MANE Select	ENSP00000374455.4:p.Ser403Thr
NM_001142298.1:c.955T>A (SQSTM1)	NP_001135770.1:p.Ser319Thr
NM_001142298.2:c.955T>A (SQSTM1)	NP_001135770.1:p.Ser319Thr
NM_001142299.1:c.955T>A (SQSTM1)	NP_001135771.1:p.Ser319Thr
NM_001142299.2:c.955T>A (SQSTM1)	NP_001135771.1:p.Ser319Thr
NM_003900.4:c.1207T>A (SQSTM1)	NP_003891.1:p.Ser403Thr
ENST00000360718.5:c.955T>A (SQSTM1)	ENSP00000353944.5:p.Ser319Thr
ENST00000389805.8:c.1207T>A (SQSTM1)	ENSP00000374455.4:p.Ser403Thr
ENST00000510187.5:c.957T>A (SQSTM1)	ENSP00000424477.1:p.Cys319Ter
ENST00000522663.5:c.*1213A>T (MRNIP)	ENSP00000429835.1:n.*1213A>T
XM_017010010.1:c.955T>A (SQSTM1)	XP_016865499.1:p.Ser319Thr