Canonical Allele Identifier: CA004489

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48751
• ClinVar RCV Id: RCV000041998 ; RCV000122186 ; RCV000163452 ; RCV000383299 ; RCV000514892 ; RCV001082139
• dbSNP Id: rs118203504
• ExAC: 9:135786013 G / A
• gnomAD v2: 9-135786013-G-A
• gnomAD v3: 9-132910626-G-A
• gnomAD v4: 9-132910626-G-A
• MyVariant Identifiers: chr9:g.135786013G>A (hg19) ; chr9:g.132910626G>A (hg38)
• PubMed: PMID:10227394 ; PMID:15798777 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132910626G>A , CM000671.2:g.132910626G>A	GRCh38
NC_000009.11:g.135786013G>A , CM000671.1:g.135786013G>A	GRCh37
NC_000009.10:g.134775834G>A	NCBI36
NG_012386.1:g.39008C>T , LRG_486:g.39008C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1205C>T	ENSP00000496126.2:p.Ser402Leu
ENST00000490179.4:c.1208C>T	ENSP00000495533.2:p.Ser403Leu
ENST00000642261.2:c.1208C>T	ENSP00000494743.2:p.Ser403Leu
ENST00000643275.2:c.1208C>T	ENSP00000495598.2:p.Ser403Leu
ENST00000643362.2:c.876+827C>T	ENSP00000496398.2:n.876+827C>T
ENST00000643625.2:c.1208C>T	ENSP00000495546.2:p.Ser403Leu
ENST00000643691.2:c.845C>T	ENSP00000494916.2:p.Ser282Leu
ENST00000644184.2:c.1208C>T	ENSP00000495428.2:p.Ser403Leu
ENST00000645129.2:c.1052C>T	ENSP00000493639.2:p.Ser351Leu
ENST00000646440.2:c.1208C>T	ENSP00000495830.2:p.Ser403Leu
ENST00000647078.2:c.*102C>T	ENSP00000496066.1:n.*102C>T
ENST00000298552.9:c.1208C>T MANE Select	ENSP00000298552.3:p.Ser403Leu
ENST00000493467.6:n.479C>T
ENST00000642344.1:c.*949C>T	ENSP00000494847.1:n.*949C>T
ENST00000642617.1:c.1205C>T	ENSP00000493773.1:p.Ser402Leu
ENST00000642627.1:c.1205C>T	ENSP00000496772.1:p.Ser402Leu
ENST00000642646.1:c.1208C>T	ENSP00000496292.1:p.Ser403Leu
ENST00000642745.1:c.1208C>T	ENSP00000493963.1:p.Ser403Leu
ENST00000642811.1:c.*978C>T	ENSP00000495554.1:n.*978C>T
ENST00000643072.1:c.1055C>T	ENSP00000496691.1:p.Ser352Leu
ENST00000643362.1:c.876+827C>T	ENSP00000496398.1:n.876+827C>T
ENST00000643583.1:c.1208C>T	ENSP00000494685.1:p.Ser403Leu
ENST00000643875.1:c.1208C>T	ENSP00000495158.1:p.Ser403Leu
ENST00000644097.1:c.1205C>T	ENSP00000494682.1:p.Ser402Leu
ENST00000644255.1:c.*975C>T	ENSP00000493608.1:n.*975C>T
ENST00000644319.1:n.1583C>T
ENST00000644997.1:c.*862C>T	ENSP00000495654.1:n.*862C>T
ENST00000645150.1:c.1208C>T	ENSP00000494365.1:p.Ser403Leu
ENST00000645901.1:n.2059C>T
ENST00000646391.1:c.*978C>T	ENSP00000494104.1:n.*978C>T
ENST00000646625.1:c.1208C>T	ENSP00000496263.1:p.Ser403Leu
ENST00000647078.1:c.*102C>T	ENSP00000496066.1:n.*102C>T
ENST00000647279.1:c.*447C>T	ENSP00000494502.1:n.*447C>T
ENST00000647462.1:c.1205C>T	ENSP00000495821.1:p.Ser402Leu
ENST00000647506.1:n.2084C>T
ENST00000647534.1:n.272C>T
ENST00000298552.7:c.1208C>T	ENSP00000298552.3:p.Ser403Leu
ENST00000440111.6:c.1208C>T	ENSP00000394524.2:p.Ser403Leu
ENST00000493467.5:n.1404C>T
ENST00000545250.5:c.1055C>T	ENSP00000444017.1:p.Ser352Leu
NM_000368.4:c.1208C>T , LRG_486t1:c.1208C>T	NP_000359.1:p.Ser403Leu
NM_001162426.1:c.1205C>T	NP_001155898.1:p.Ser402Leu
NM_001162427.1:c.1055C>T	NP_001155899.1:p.Ser352Leu
XM_005272211.1:c.1208C>T	XP_005272268.1:p.Ser403Leu
XM_006717271.1:c.1208C>T	XP_006717334.1:p.Ser403Leu
XM_006717272.2:c.1208C>T	XP_006717335.1:p.Ser403Leu
XM_011518979.1:c.1208C>T	XP_011517281.1:p.Ser403Leu
NM_001362177.1:c.845C>T	NP_001349106.1:p.Ser282Leu
XM_011518979.2:c.1208C>T	XP_011517281.1:p.Ser403Leu
XM_017015096.1:c.1208C>T	XP_016870585.1:p.Ser403Leu
XM_017015097.1:c.1208C>T	XP_016870586.1:p.Ser403Leu
XM_017015098.1:c.1205C>T	XP_016870587.1:p.Ser402Leu
XM_017015100.1:c.845C>T	XP_016870589.1:p.Ser282Leu
XM_017015101.1:c.842C>T	XP_016870590.1:p.Ser281Leu
NM_000368.5:c.1208C>T MANE Select	NP_000359.1:p.Ser403Leu
NM_001162426.2:c.1205C>T	NP_001155898.1:p.Ser402Leu
NM_001162427.2:c.1055C>T	NP_001155899.1:p.Ser352Leu
NM_001362177.2:c.845C>T	NP_001349106.1:p.Ser282Leu