Canonical Allele Identifier: CA375367929
Community Standard Title: NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896720T>C , CM000671.2:g.132896720T>C GRCh38
NC_000009.11:g.135772107T>C , CM000671.1:g.135772107T>C GRCh37
NC_000009.10:g.134761928T>C NCBI36
NG_012386.1:g.52914A>G , LRG_486:g.52914A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3010A>G MANE Select NP_000359.1:p.Met1004Val
ENST00000298552.9:c.3010A>G MANE Select ENSP00000298552.3:p.Met1004Val
NM_000368.4:c.3010A>G , LRG_486t1:c.3010A>G NP_000359.1:p.Met1004Val
NM_001162426.1:c.3007A>G NP_001155898.1:p.Met1003Val
NM_001162426.2:c.3007A>G NP_001155898.1:p.Met1003Val
NM_001162427.1:c.2857A>G NP_001155899.1:p.Met953Val
NM_001162427.2:c.2857A>G NP_001155899.1:p.Met953Val
NM_001362177.1:c.2647A>G NP_001349106.1:p.Met883Val
NM_001362177.2:c.2647A>G NP_001349106.1:p.Met883Val
ENST00000298552.7:c.3010A>G ENSP00000298552.3:p.Met1004Val
ENST00000440111.6:c.3010A>G ENSP00000394524.2:p.Met1004Val
ENST00000475903.7:c.3007A>G ENSP00000496126.2:p.Met1003Val
ENST00000490179.4:c.3010A>G ENSP00000495533.2:p.Met1004Val
ENST00000545250.5:c.2857A>G ENSP00000444017.1:p.Met953Val
ENST00000642261.1:c.1147A>G
ENST00000642261.2:c.*866A>G ENSP00000494743.2:n.*866A>G
ENST00000642617.1:c.3007A>G ENSP00000493773.1:p.Met1003Val
ENST00000642627.1:c.2992A>G ENSP00000496772.1:p.Met998Val
ENST00000642811.1:c.*2780A>G ENSP00000495554.1:n.*2780A>G
ENST00000643072.1:c.2857A>G ENSP00000496691.1:p.Met953Val
ENST00000643275.1:c.1484A>G ENSP00000495598.1:n.1484A>G
ENST00000643275.2:c.*950A>G ENSP00000495598.2:n.*950A>G
ENST00000643362.2:c.2623A>G ENSP00000496398.2:p.Met875Val
ENST00000643583.1:c.2995A>G ENSP00000494685.1:p.Met999Val
ENST00000643625.1:c.887A>G ENSP00000495546.1:n.887A>G
ENST00000643625.2:c.*752A>G ENSP00000495546.2:n.*752A>G
ENST00000643691.2:c.2647A>G ENSP00000494916.2:p.Met883Val
ENST00000643875.1:c.3010A>G ENSP00000495158.1:p.Met1004Val
ENST00000644097.1:c.3007A>G ENSP00000494682.1:p.Met1003Val
ENST00000644184.1:c.1705A>G ENSP00000495428.1:p.Met569Val
ENST00000644184.2:c.2968A>G ENSP00000495428.2:p.Met990Val
ENST00000644255.1:c.*2777A>G ENSP00000493608.1:n.*2777A>G
ENST00000644319.1:n.3385A>G
ENST00000644786.1:n.669A>G
ENST00000644882.1:n.1918A>G
ENST00000645129.2:c.2854A>G ENSP00000493639.2:p.Met952Val
ENST00000645901.1:n.3861A>G
ENST00000646391.1:c.*2780A>G ENSP00000494104.1:n.*2780A>G
ENST00000646440.2:c.3010A>G ENSP00000495830.2:p.Met1004Val
ENST00000646625.1:c.3010A>G ENSP00000496263.1:p.Met1004Val
ENST00000647262.1:n.1975A>G
ENST00000647279.1:c.*2249A>G ENSP00000494502.1:n.*2249A>G
ENST00000647534.1:n.2074A>G
XM_005272211.1:c.3010A>G XP_005272268.1:p.Met1004Val
XM_006717271.1:c.3010A>G XP_006717334.1:p.Met1004Val
XM_011518979.1:c.3010A>G XP_011517281.1:p.Met1004Val
XM_011518979.2:c.3010A>G XP_011517281.1:p.Met1004Val
XM_017015096.1:c.3010A>G XP_016870585.1:p.Met1004Val
XM_017015097.1:c.3010A>G XP_016870586.1:p.Met1004Val
XM_017015098.1:c.3007A>G XP_016870587.1:p.Met1003Val
XM_017015100.1:c.2647A>G XP_016870589.1:p.Met883Val
XM_017015101.1:c.2644A>G XP_016870590.1:p.Met882Val