Canonical Allele Identifier: CA3600858

Gene: SQSTM1 MRNIP

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179836471A>C , CM000667.2:g.179836471A>C	GRCh38
NC_000005.9:g.179263471A>C , CM000667.1:g.179263471A>C	GRCh37
NC_000005.8:g.179196077A>C	NCBI36
NG_011342.1:g.35084A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003900.5:c.1201A>C (SQSTM1) MANE Select	NP_003891.1:p.Met401Leu
ENST00000389805.9:c.1201A>C (SQSTM1) MANE Select	ENSP00000374455.4:p.Met401Leu
NM_001142298.1:c.949A>C (SQSTM1)	NP_001135770.1:p.Met317Leu
NM_001142298.2:c.949A>C (SQSTM1)	NP_001135770.1:p.Met317Leu
NM_001142299.1:c.949A>C (SQSTM1)	NP_001135771.1:p.Met317Leu
NM_001142299.2:c.949A>C (SQSTM1)	NP_001135771.1:p.Met317Leu
NM_003900.4:c.1201A>C (SQSTM1)	NP_003891.1:p.Met401Leu
ENST00000360718.5:c.949A>C (SQSTM1)	ENSP00000353944.5:p.Met317Leu
ENST00000389805.8:c.1201A>C (SQSTM1)	ENSP00000374455.4:p.Met401Leu
ENST00000510187.5:c.951A>C (SQSTM1)	ENSP00000424477.1:p.Glu317Asp
ENST00000522663.5:c.*1219T>G (MRNIP)	ENSP00000429835.1:n.*1219T>G
XM_017010010.1:c.949A>C (SQSTM1)	XP_016865499.1:p.Met317Leu