Canonical Allele Identifier: CA034033
Community Standard Title: NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132897601T>C , CM000671.2:g.132897601T>C GRCh38
NC_000009.11:g.135772988T>C , CM000671.1:g.135772988T>C GRCh37
NC_000009.10:g.134762809T>C NCBI36
NG_012386.1:g.52033A>G , LRG_486:g.52033A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2635A>G MANE Select NP_000359.1:p.Met879Val
ENST00000298552.9:c.2635A>G MANE Select ENSP00000298552.3:p.Met879Val
NM_000368.4:c.2635A>G , LRG_486t1:c.2635A>G NP_000359.1:p.Met879Val
NM_001162426.1:c.2632A>G NP_001155898.1:p.Met878Val
NM_001162426.2:c.2632A>G NP_001155898.1:p.Met878Val
NM_001162427.1:c.2482A>G NP_001155899.1:p.Met828Val
NM_001162427.2:c.2482A>G NP_001155899.1:p.Met828Val
NM_001362177.1:c.2272A>G NP_001349106.1:p.Met758Val
NM_001362177.2:c.2272A>G NP_001349106.1:p.Met758Val
ENST00000298552.7:c.2635A>G ENSP00000298552.3:p.Met879Val
ENST00000440111.6:c.2635A>G ENSP00000394524.2:p.Met879Val
ENST00000475903.7:c.2632A>G ENSP00000496126.2:p.Met878Val
ENST00000490179.4:c.2635A>G ENSP00000495533.2:p.Met879Val
ENST00000545250.5:c.2482A>G ENSP00000444017.1:p.Met828Val
ENST00000642261.1:c.695A>G
ENST00000642261.2:c.*414A>G ENSP00000494743.2:n.*414A>G
ENST00000642617.1:c.2632A>G ENSP00000493773.1:p.Met878Val
ENST00000642627.1:c.2617A>G ENSP00000496772.1:p.Met873Val
ENST00000642811.1:c.*2405A>G ENSP00000495554.1:n.*2405A>G
ENST00000643072.1:c.2482A>G ENSP00000496691.1:p.Met828Val
ENST00000643275.1:c.1109A>G ENSP00000495598.1:n.1109A>G
ENST00000643275.2:c.*575A>G ENSP00000495598.2:n.*575A>G
ENST00000643362.2:c.2248A>G ENSP00000496398.2:p.Met750Val
ENST00000643583.1:c.2620A>G ENSP00000494685.1:p.Met874Val
ENST00000643625.1:c.512A>G ENSP00000495546.1:n.512A>G
ENST00000643625.2:c.*377A>G ENSP00000495546.2:n.*377A>G
ENST00000643691.2:c.2272A>G ENSP00000494916.2:p.Met758Val
ENST00000643875.1:c.2635A>G ENSP00000495158.1:p.Met879Val
ENST00000644097.1:c.2632A>G ENSP00000494682.1:p.Met878Val
ENST00000644184.1:c.1330A>G ENSP00000495428.1:p.Met444Val
ENST00000644184.2:c.2593A>G ENSP00000495428.2:p.Met865Val
ENST00000644255.1:c.*2402A>G ENSP00000493608.1:n.*2402A>G
ENST00000644319.1:n.3010A>G
ENST00000644786.1:n.294A>G
ENST00000644882.1:n.1548A>G
ENST00000645129.2:c.2479A>G ENSP00000493639.2:p.Met827Val
ENST00000645901.1:n.3486A>G
ENST00000646391.1:c.*2405A>G ENSP00000494104.1:n.*2405A>G
ENST00000646440.2:c.2635A>G ENSP00000495830.2:p.Met879Val
ENST00000646625.1:c.2635A>G ENSP00000496263.1:p.Met879Val
ENST00000647262.1:n.1600A>G
ENST00000647279.1:c.*1874A>G ENSP00000494502.1:n.*1874A>G
ENST00000647534.1:n.1699A>G
XM_005272211.1:c.2635A>G XP_005272268.1:p.Met879Val
XM_006717271.1:c.2635A>G XP_006717334.1:p.Met879Val
XM_011518979.1:c.2635A>G XP_011517281.1:p.Met879Val
XM_011518979.2:c.2635A>G XP_011517281.1:p.Met879Val
XM_017015096.1:c.2635A>G XP_016870585.1:p.Met879Val
XM_017015097.1:c.2635A>G XP_016870586.1:p.Met879Val
XM_017015098.1:c.2632A>G XP_016870587.1:p.Met878Val
XM_017015100.1:c.2272A>G XP_016870589.1:p.Met758Val
XM_017015101.1:c.2269A>G XP_016870590.1:p.Met757Val