Canonical Allele Identifier: CA005874
Community Standard Title: NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132903802T>C , CM000671.2:g.132903802T>C GRCh38
NC_000009.11:g.135779189T>C , CM000671.1:g.135779189T>C GRCh37
NC_000009.10:g.134769010T>C NCBI36
NG_012386.1:g.45832A>G , LRG_486:g.45832A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2057A>G MANE Select NP_000359.1:p.Asp686Gly
ENST00000298552.9:c.2057A>G MANE Select ENSP00000298552.3:p.Asp686Gly
NM_000368.4:c.2057A>G , LRG_486t1:c.2057A>G NP_000359.1:p.Asp686Gly
NM_001162426.1:c.2054A>G NP_001155898.1:p.Asp685Gly
NM_001162426.2:c.2054A>G NP_001155898.1:p.Asp685Gly
NM_001162427.1:c.1904A>G NP_001155899.1:p.Asp635Gly
NM_001162427.2:c.1904A>G NP_001155899.1:p.Asp635Gly
NM_001362177.1:c.1694A>G NP_001349106.1:p.Asp565Gly
NM_001362177.2:c.1694A>G NP_001349106.1:p.Asp565Gly
ENST00000298552.7:c.2057A>G ENSP00000298552.3:p.Asp686Gly
ENST00000440111.6:c.2057A>G ENSP00000394524.2:p.Asp686Gly
ENST00000475903.7:c.2054A>G ENSP00000496126.2:p.Asp685Gly
ENST00000490179.4:c.2057A>G ENSP00000495533.2:p.Asp686Gly
ENST00000545250.5:c.1904A>G ENSP00000444017.1:p.Asp635Gly
ENST00000642261.1:c.121A>G
ENST00000642261.2:c.2057A>G ENSP00000494743.2:p.Asp686Gly
ENST00000642617.1:c.2054A>G ENSP00000493773.1:p.Asp685Gly
ENST00000642627.1:c.2039A>G ENSP00000496772.1:p.Asp680Gly
ENST00000642811.1:c.*1827A>G ENSP00000495554.1:n.*1827A>G
ENST00000643072.1:c.1904A>G ENSP00000496691.1:p.Asp635Gly
ENST00000643275.1:c.531A>G ENSP00000495598.1:p.Arg177=
ENST00000643275.2:c.2013A>G ENSP00000495598.2:p.Arg671=
ENST00000643362.2:c.1670A>G ENSP00000496398.2:p.Asp557Gly
ENST00000643583.1:c.2042A>G ENSP00000494685.1:p.Asp681Gly
ENST00000643625.1:c.85+609A>G ENSP00000495546.1:n.85+609A>G
ENST00000643625.2:c.2041+609A>G ENSP00000495546.2:n.2041+609A>G
ENST00000643691.2:c.1694A>G ENSP00000494916.2:p.Asp565Gly
ENST00000643875.1:c.2057A>G ENSP00000495158.1:p.Asp686Gly
ENST00000644097.1:c.2054A>G ENSP00000494682.1:p.Asp685Gly
ENST00000644184.1:c.794A>G ENSP00000495428.1:p.Asp265Gly
ENST00000644184.2:c.2057A>G ENSP00000495428.2:p.Asp686Gly
ENST00000644255.1:c.*1824A>G ENSP00000493608.1:n.*1824A>G
ENST00000644319.1:n.2432A>G
ENST00000644882.1:n.1012A>G
ENST00000645129.2:c.1901A>G ENSP00000493639.2:p.Asp634Gly
ENST00000645901.1:n.2908A>G
ENST00000646391.1:c.*1827A>G ENSP00000494104.1:n.*1827A>G
ENST00000646440.2:c.2057A>G ENSP00000495830.2:p.Asp686Gly
ENST00000646625.1:c.2057A>G ENSP00000496263.1:p.Asp686Gly
ENST00000647262.1:n.1022A>G
ENST00000647279.1:c.*1296A>G ENSP00000494502.1:n.*1296A>G
ENST00000647506.1:n.2933A>G
ENST00000647534.1:n.1121A>G
XM_005272211.1:c.2057A>G XP_005272268.1:p.Asp686Gly
XM_006717271.1:c.2057A>G XP_006717334.1:p.Asp686Gly
XM_011518979.1:c.2057A>G XP_011517281.1:p.Asp686Gly
XM_011518979.2:c.2057A>G XP_011517281.1:p.Asp686Gly
XM_017015096.1:c.2057A>G XP_016870585.1:p.Asp686Gly
XM_017015097.1:c.2057A>G XP_016870586.1:p.Asp686Gly
XM_017015098.1:c.2054A>G XP_016870587.1:p.Asp685Gly
XM_017015100.1:c.1694A>G XP_016870589.1:p.Asp565Gly
XM_017015101.1:c.1691A>G XP_016870590.1:p.Asp564Gly