Canonical Allele Identifier: CA362443972
Community Standard Title: NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
Gene: SQSTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179824007T>G , CM000667.2:g.179824007T>G GRCh38
NC_000005.9:g.179251007T>G , CM000667.1:g.179251007T>G GRCh37
NC_000005.8:g.179183613T>G NCBI36
NG_011342.1:g.22620T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003900.5:c.451T>G MANE Select NP_003891.1:p.Cys151Gly
ENST00000389805.9:c.451T>G MANE Select ENSP00000374455.4:p.Cys151Gly
NM_001142298.1:c.199T>G NP_001135770.1:p.Cys67Gly
NM_001142298.2:c.199T>G NP_001135770.1:p.Cys67Gly
NM_001142299.1:c.199T>G NP_001135771.1:p.Cys67Gly
NM_001142299.2:c.199T>G NP_001135771.1:p.Cys67Gly
NM_003900.4:c.451T>G NP_003891.1:p.Cys151Gly
ENST00000360718.5:c.199T>G ENSP00000353944.5:p.Cys67Gly
ENST00000389805.8:c.451T>G ENSP00000374455.4:p.Cys151Gly
ENST00000422245.5:c.199T>G ENSP00000394534.1:p.Cys67Gly
ENST00000464493.5:n.346T>G
ENST00000466342.1:n.150T>G
ENST00000485412.1:n.443T>G
ENST00000504627.1:c.520T>G ENSP00000425957.1:p.Cys174Gly
ENST00000508284.5:c.*173T>G ENSP00000424195.1:n.*173T>G
ENST00000510187.5:c.451T>G ENSP00000424477.1:p.Cys151Gly
ENST00000514093.5:c.199T>G ENSP00000427308.1:p.Cys67Gly
XM_017010010.1:c.199T>G XP_016865499.1:p.Cys67Gly