Canonical Allele Identifier: CA375366412

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1431901
• ClinVar RCV Id: RCV001959735
• dbSNP Id: rs2131588755
• gnomAD v4: 9-132896312-G-A
• MyVariant Identifiers: chr9:g.135771699G>A (hg19) ; chr9:g.132896312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896312G>A , CM000671.2:g.132896312G>A	GRCh38
NC_000009.11:g.135771699G>A , CM000671.1:g.135771699G>A	GRCh37
NC_000009.10:g.134761520G>A	NCBI36
NG_012386.1:g.53322C>T , LRG_486:g.53322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3415C>T	ENSP00000496126.2:p.Pro1139Ser
ENST00000490179.4:c.3418C>T	ENSP00000495533.2:p.Pro1140Ser
ENST00000642261.2:c.*1274C>T	ENSP00000494743.2:n.*1274C>T
ENST00000643275.2:c.*1358C>T	ENSP00000495598.2:n.*1358C>T
ENST00000643362.2:c.3031C>T	ENSP00000496398.2:p.Pro1011Ser
ENST00000643625.2:c.*1160C>T	ENSP00000495546.2:n.*1160C>T
ENST00000643691.2:c.3055C>T	ENSP00000494916.2:p.Pro1019Ser
ENST00000644184.2:c.3376C>T	ENSP00000495428.2:p.Pro1126Ser
ENST00000645129.2:c.3262C>T	ENSP00000493639.2:p.Pro1088Ser
ENST00000646440.2:c.3418C>T	ENSP00000495830.2:p.Pro1140Ser
ENST00000298552.9:c.3418C>T MANE Select	ENSP00000298552.3:p.Pro1140Ser
ENST00000642617.1:c.3415C>T	ENSP00000493773.1:p.Pro1139Ser
ENST00000642627.1:c.3400C>T	ENSP00000496772.1:p.Pro1134Ser
ENST00000642811.1:c.*3188C>T	ENSP00000495554.1:n.*3188C>T
ENST00000643072.1:c.3265C>T	ENSP00000496691.1:p.Pro1089Ser
ENST00000643583.1:c.3403C>T	ENSP00000494685.1:p.Pro1135Ser
ENST00000643625.1:c.1295C>T	ENSP00000495546.1:n.1295C>T
ENST00000643875.1:c.3418C>T	ENSP00000495158.1:p.Pro1140Ser
ENST00000644097.1:c.3415C>T	ENSP00000494682.1:p.Pro1139Ser
ENST00000644184.1:c.2113C>T	ENSP00000495428.1:p.Pro705Ser
ENST00000644255.1:c.*3185C>T	ENSP00000493608.1:n.*3185C>T
ENST00000644319.1:n.3793C>T
ENST00000644786.1:n.1077C>T
ENST00000644882.1:n.2326C>T
ENST00000645901.1:n.4269C>T
ENST00000646391.1:c.*3188C>T	ENSP00000494104.1:n.*3188C>T
ENST00000646625.1:c.3418C>T	ENSP00000496263.1:p.Pro1140Ser
ENST00000647262.1:n.2383C>T
ENST00000647279.1:c.*2657C>T	ENSP00000494502.1:n.*2657C>T
ENST00000647534.1:n.2482C>T
ENST00000298552.7:c.3418C>T	ENSP00000298552.3:p.Pro1140Ser
ENST00000440111.6:c.3418C>T	ENSP00000394524.2:p.Pro1140Ser
ENST00000545250.5:c.3265C>T	ENSP00000444017.1:p.Pro1089Ser
NM_000368.4:c.3418C>T , LRG_486t1:c.3418C>T	NP_000359.1:p.Pro1140Ser
NM_001162426.1:c.3415C>T	NP_001155898.1:p.Pro1139Ser
NM_001162427.1:c.3265C>T	NP_001155899.1:p.Pro1089Ser
XM_005272211.1:c.3418C>T	XP_005272268.1:p.Pro1140Ser
XM_006717271.1:c.3418C>T	XP_006717334.1:p.Pro1140Ser
XM_011518979.1:c.3418C>T	XP_011517281.1:p.Pro1140Ser
NM_001362177.1:c.3055C>T	NP_001349106.1:p.Pro1019Ser
XM_011518979.2:c.3418C>T	XP_011517281.1:p.Pro1140Ser
XM_017015096.1:c.3418C>T	XP_016870585.1:p.Pro1140Ser
XM_017015097.1:c.3418C>T	XP_016870586.1:p.Pro1140Ser
XM_017015098.1:c.3415C>T	XP_016870587.1:p.Pro1139Ser
XM_017015100.1:c.3055C>T	XP_016870589.1:p.Pro1019Ser
XM_017015101.1:c.3052C>T	XP_016870590.1:p.Pro1018Ser
NM_000368.5:c.3418C>T MANE Select	NP_000359.1:p.Pro1140Ser
NM_001162426.2:c.3415C>T	NP_001155898.1:p.Pro1139Ser
NM_001162427.2:c.3265C>T	NP_001155899.1:p.Pro1089Ser
NM_001362177.2:c.3055C>T	NP_001349106.1:p.Pro1019Ser