Canonical Allele Identifier: CA375358553
Community Standard Title: NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132901642C>A , CM000671.2:g.132901642C>A GRCh38
NC_000009.11:g.135777029C>A , CM000671.1:g.135777029C>A GRCh37
NC_000009.10:g.134766850C>A NCBI36
NG_012386.1:g.47992G>T , LRG_486:g.47992G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2449G>T MANE Select NP_000359.1:p.Ala817Ser
ENST00000298552.9:c.2449G>T MANE Select ENSP00000298552.3:p.Ala817Ser
NM_000368.4:c.2449G>T , LRG_486t1:c.2449G>T NP_000359.1:p.Ala817Ser
NM_001162426.1:c.2446G>T NP_001155898.1:p.Ala816Ser
NM_001162426.2:c.2446G>T NP_001155898.1:p.Ala816Ser
NM_001162427.1:c.2296G>T NP_001155899.1:p.Ala766Ser
NM_001162427.2:c.2296G>T NP_001155899.1:p.Ala766Ser
NM_001362177.1:c.2086G>T NP_001349106.1:p.Ala696Ser
NM_001362177.2:c.2086G>T NP_001349106.1:p.Ala696Ser
ENST00000298552.7:c.2449G>T ENSP00000298552.3:p.Ala817Ser
ENST00000440111.6:c.2449G>T ENSP00000394524.2:p.Ala817Ser
ENST00000475903.7:c.2446G>T ENSP00000496126.2:p.Ala816Ser
ENST00000490179.4:c.2449G>T ENSP00000495533.2:p.Ala817Ser
ENST00000545250.5:c.2296G>T ENSP00000444017.1:p.Ala766Ser
ENST00000642261.1:c.509G>T
ENST00000642261.2:c.*228G>T ENSP00000494743.2:n.*228G>T
ENST00000642617.1:c.2446G>T ENSP00000493773.1:p.Ala816Ser
ENST00000642627.1:c.2431G>T ENSP00000496772.1:p.Ala811Ser
ENST00000642811.1:c.*2219G>T ENSP00000495554.1:n.*2219G>T
ENST00000643072.1:c.2296G>T ENSP00000496691.1:p.Ala766Ser
ENST00000643275.1:c.923G>T ENSP00000495598.1:n.923G>T
ENST00000643275.2:c.*389G>T ENSP00000495598.2:n.*389G>T
ENST00000643362.2:c.2062G>T ENSP00000496398.2:p.Ala688Ser
ENST00000643583.1:c.2434G>T ENSP00000494685.1:p.Ala812Ser
ENST00000643625.1:c.326G>T ENSP00000495546.1:n.326G>T
ENST00000643625.2:c.*191G>T ENSP00000495546.2:n.*191G>T
ENST00000643691.2:c.2086G>T ENSP00000494916.2:p.Ala696Ser
ENST00000643875.1:c.2449G>T ENSP00000495158.1:p.Ala817Ser
ENST00000644097.1:c.2446G>T ENSP00000494682.1:p.Ala816Ser
ENST00000644184.1:c.1186G>T ENSP00000495428.1:p.Ala396Ser
ENST00000644184.2:c.2449G>T ENSP00000495428.2:p.Ala817Ser
ENST00000644255.1:c.*2216G>T ENSP00000493608.1:n.*2216G>T
ENST00000644319.1:n.2824G>T
ENST00000644786.1:n.108G>T
ENST00000644882.1:n.1404G>T
ENST00000645129.2:c.2293G>T ENSP00000493639.2:p.Ala765Ser
ENST00000645901.1:n.3300G>T
ENST00000646391.1:c.*2219G>T ENSP00000494104.1:n.*2219G>T
ENST00000646440.2:c.2449G>T ENSP00000495830.2:p.Ala817Ser
ENST00000646625.1:c.2449G>T ENSP00000496263.1:p.Ala817Ser
ENST00000647262.1:n.1414G>T
ENST00000647279.1:c.*1688G>T ENSP00000494502.1:n.*1688G>T
ENST00000647506.1:n.3325G>T
ENST00000647534.1:n.1513G>T
XM_005272211.1:c.2449G>T XP_005272268.1:p.Ala817Ser
XM_006717271.1:c.2449G>T XP_006717334.1:p.Ala817Ser
XM_011518979.1:c.2449G>T XP_011517281.1:p.Ala817Ser
XM_011518979.2:c.2449G>T XP_011517281.1:p.Ala817Ser
XM_017015096.1:c.2449G>T XP_016870585.1:p.Ala817Ser
XM_017015097.1:c.2449G>T XP_016870586.1:p.Ala817Ser
XM_017015098.1:c.2446G>T XP_016870587.1:p.Ala816Ser
XM_017015100.1:c.2086G>T XP_016870589.1:p.Ala696Ser
XM_017015101.1:c.2083G>T XP_016870590.1:p.Ala695Ser