Canonical Allele Identifier: CA039955

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2158405
• ClinVar RCV Id: RCV003093530
• dbSNP Id: rs781189978
• ExAC: 9:135786902 G / C
• gnomAD v2: 9-135786902-G-C
• gnomAD v4: 9-132911515-G-C
• MyVariant Identifiers: chr9:g.135786902G>C (hg19) ; chr9:g.132911515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132911515G>C , CM000671.2:g.132911515G>C	GRCh38
NC_000009.11:g.135786902G>C , CM000671.1:g.135786902G>C	GRCh37
NC_000009.10:g.134776723G>C	NCBI36
NG_012386.1:g.38119C>G , LRG_486:g.38119C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.967C>G	ENSP00000496126.2:p.Pro323Ala
ENST00000490179.4:c.967C>G	ENSP00000495533.2:p.Pro323Ala
ENST00000642261.2:c.967C>G	ENSP00000494743.2:p.Pro323Ala
ENST00000643275.2:c.967C>G	ENSP00000495598.2:p.Pro323Ala
ENST00000643362.2:c.814C>G	ENSP00000496398.2:p.Pro272Ala
ENST00000643625.2:c.967C>G	ENSP00000495546.2:p.Pro323Ala
ENST00000643691.2:c.604C>G	ENSP00000494916.2:p.Pro202Ala
ENST00000644184.2:c.967C>G	ENSP00000495428.2:p.Pro323Ala
ENST00000645129.2:c.814C>G	ENSP00000493639.2:p.Pro272Ala
ENST00000646440.2:c.967C>G	ENSP00000495830.2:p.Pro323Ala
ENST00000647078.2:c.967C>G	ENSP00000496066.1:p.Pro323Ala
ENST00000298552.9:c.967C>G MANE Select	ENSP00000298552.3:p.Pro323Ala
ENST00000403810.6:c.967C>G	ENSP00000386093.1:p.Pro323Ala
ENST00000493467.6:n.241C>G
ENST00000642344.1:c.*708C>G	ENSP00000494847.1:n.*708C>G
ENST00000642617.1:c.967C>G	ENSP00000493773.1:p.Pro323Ala
ENST00000642627.1:c.967C>G	ENSP00000496772.1:p.Pro323Ala
ENST00000642646.1:c.967C>G	ENSP00000496292.1:p.Pro323Ala
ENST00000642745.1:c.967C>G	ENSP00000493963.1:p.Pro323Ala
ENST00000642811.1:c.*737C>G	ENSP00000495554.1:n.*737C>G
ENST00000642854.1:c.*752C>G	ENSP00000494639.1:n.*752C>G
ENST00000643072.1:c.814C>G	ENSP00000496691.1:p.Pro272Ala
ENST00000643362.1:c.814C>G	ENSP00000496398.1:p.Pro272Ala
ENST00000643583.1:c.967C>G	ENSP00000494685.1:p.Pro323Ala
ENST00000643691.1:c.604C>G	ENSP00000494916.1:p.Pro202Ala
ENST00000643875.1:c.967C>G	ENSP00000495158.1:p.Pro323Ala
ENST00000644097.1:c.967C>G	ENSP00000494682.1:p.Pro323Ala
ENST00000644255.1:c.*737C>G	ENSP00000493608.1:n.*737C>G
ENST00000644319.1:n.694C>G
ENST00000644997.1:c.*624C>G	ENSP00000495654.1:n.*624C>G
ENST00000645129.1:c.814C>G	ENSP00000493639.1:p.Pro272Ala
ENST00000645150.1:c.967C>G	ENSP00000494365.1:p.Pro323Ala
ENST00000645901.1:n.1170C>G
ENST00000646391.1:c.*737C>G	ENSP00000494104.1:n.*737C>G
ENST00000646625.1:c.967C>G	ENSP00000496263.1:p.Pro323Ala
ENST00000647078.1:c.967C>G	ENSP00000496066.1:p.Pro323Ala
ENST00000647279.1:c.*206C>G	ENSP00000494502.1:n.*206C>G
ENST00000647462.1:c.967C>G	ENSP00000495821.1:p.Pro323Ala
ENST00000647506.1:n.1195C>G
ENST00000298552.7:c.967C>G	ENSP00000298552.3:p.Pro323Ala
ENST00000403810.5:c.967C>G	ENSP00000386093.1:p.Pro323Ala
ENST00000440111.6:c.967C>G	ENSP00000394524.2:p.Pro323Ala
ENST00000493467.5:n.1163C>G
ENST00000545250.5:c.814C>G	ENSP00000444017.1:p.Pro272Ala
NM_000368.4:c.967C>G , LRG_486t1:c.967C>G	NP_000359.1:p.Pro323Ala
NM_001162426.1:c.967C>G	NP_001155898.1:p.Pro323Ala
NM_001162427.1:c.814C>G	NP_001155899.1:p.Pro272Ala
XM_005272211.1:c.967C>G	XP_005272268.1:p.Pro323Ala
XM_006717271.1:c.967C>G	XP_006717334.1:p.Pro323Ala
XM_006717272.2:c.967C>G	XP_006717335.1:p.Pro323Ala
XM_011518979.1:c.967C>G	XP_011517281.1:p.Pro323Ala
NM_001362177.1:c.604C>G	NP_001349106.1:p.Pro202Ala
XM_011518979.2:c.967C>G	XP_011517281.1:p.Pro323Ala
XM_017015096.1:c.967C>G	XP_016870585.1:p.Pro323Ala
XM_017015097.1:c.967C>G	XP_016870586.1:p.Pro323Ala
XM_017015098.1:c.967C>G	XP_016870587.1:p.Pro323Ala
XM_017015100.1:c.604C>G	XP_016870589.1:p.Pro202Ala
XM_017015101.1:c.604C>G	XP_016870590.1:p.Pro202Ala
NM_000368.5:c.967C>G MANE Select	NP_000359.1:p.Pro323Ala
NM_001162426.2:c.967C>G	NP_001155898.1:p.Pro323Ala
NM_001162427.2:c.814C>G	NP_001155899.1:p.Pro272Ala
NM_001362177.2:c.604C>G	NP_001349106.1:p.Pro202Ala