Canonical Allele Identifier: CA375366409

Gene: TSC1

Linked Data

• dbSNP Id: rs2131588528
• MyVariant Identifiers: chr9:g.135771696A>G (hg19) ; chr9:g.132896309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896309A>G , CM000671.2:g.132896309A>G	GRCh38
NC_000009.11:g.135771696A>G , CM000671.1:g.135771696A>G	GRCh37
NC_000009.10:g.134761517A>G	NCBI36
NG_012386.1:g.53325T>C , LRG_486:g.53325T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3418T>C	ENSP00000496126.2:p.Ser1140Pro
ENST00000490179.4:c.3421T>C	ENSP00000495533.2:p.Ser1141Pro
ENST00000642261.2:c.*1277T>C	ENSP00000494743.2:n.*1277T>C
ENST00000643275.2:c.*1361T>C	ENSP00000495598.2:n.*1361T>C
ENST00000643362.2:c.3034T>C	ENSP00000496398.2:p.Ser1012Pro
ENST00000643625.2:c.*1163T>C	ENSP00000495546.2:n.*1163T>C
ENST00000643691.2:c.3058T>C	ENSP00000494916.2:p.Ser1020Pro
ENST00000644184.2:c.3379T>C	ENSP00000495428.2:p.Ser1127Pro
ENST00000645129.2:c.3265T>C	ENSP00000493639.2:p.Ser1089Pro
ENST00000646440.2:c.3421T>C	ENSP00000495830.2:p.Ser1141Pro
ENST00000298552.9:c.3421T>C MANE Select	ENSP00000298552.3:p.Ser1141Pro
ENST00000642617.1:c.3418T>C	ENSP00000493773.1:p.Ser1140Pro
ENST00000642627.1:c.3403T>C	ENSP00000496772.1:p.Ser1135Pro
ENST00000642811.1:c.*3191T>C	ENSP00000495554.1:n.*3191T>C
ENST00000643072.1:c.3268T>C	ENSP00000496691.1:p.Ser1090Pro
ENST00000643583.1:c.3406T>C	ENSP00000494685.1:p.Ser1136Pro
ENST00000643625.1:c.1298T>C	ENSP00000495546.1:n.1298T>C
ENST00000643875.1:c.3421T>C	ENSP00000495158.1:p.Ser1141Pro
ENST00000644097.1:c.3418T>C	ENSP00000494682.1:p.Ser1140Pro
ENST00000644184.1:c.2116T>C	ENSP00000495428.1:p.Ser706Pro
ENST00000644255.1:c.*3188T>C	ENSP00000493608.1:n.*3188T>C
ENST00000644319.1:n.3796T>C
ENST00000644786.1:n.1080T>C
ENST00000644882.1:n.2329T>C
ENST00000645901.1:n.4272T>C
ENST00000646391.1:c.*3191T>C	ENSP00000494104.1:n.*3191T>C
ENST00000646625.1:c.3421T>C	ENSP00000496263.1:p.Ser1141Pro
ENST00000647262.1:n.2386T>C
ENST00000647279.1:c.*2660T>C	ENSP00000494502.1:n.*2660T>C
ENST00000647534.1:n.2485T>C
ENST00000298552.7:c.3421T>C	ENSP00000298552.3:p.Ser1141Pro
ENST00000440111.6:c.3421T>C	ENSP00000394524.2:p.Ser1141Pro
ENST00000545250.5:c.3268T>C	ENSP00000444017.1:p.Ser1090Pro
NM_000368.4:c.3421T>C , LRG_486t1:c.3421T>C	NP_000359.1:p.Ser1141Pro
NM_001162426.1:c.3418T>C	NP_001155898.1:p.Ser1140Pro
NM_001162427.1:c.3268T>C	NP_001155899.1:p.Ser1090Pro
XM_005272211.1:c.3421T>C	XP_005272268.1:p.Ser1141Pro
XM_006717271.1:c.3421T>C	XP_006717334.1:p.Ser1141Pro
XM_011518979.1:c.3421T>C	XP_011517281.1:p.Ser1141Pro
NM_001362177.1:c.3058T>C	NP_001349106.1:p.Ser1020Pro
XM_011518979.2:c.3421T>C	XP_011517281.1:p.Ser1141Pro
XM_017015096.1:c.3421T>C	XP_016870585.1:p.Ser1141Pro
XM_017015097.1:c.3421T>C	XP_016870586.1:p.Ser1141Pro
XM_017015098.1:c.3418T>C	XP_016870587.1:p.Ser1140Pro
XM_017015100.1:c.3058T>C	XP_016870589.1:p.Ser1020Pro
XM_017015101.1:c.3055T>C	XP_016870590.1:p.Ser1019Pro
NM_000368.5:c.3421T>C MANE Select	NP_000359.1:p.Ser1141Pro
NM_001162426.2:c.3418T>C	NP_001155898.1:p.Ser1140Pro
NM_001162427.2:c.3268T>C	NP_001155899.1:p.Ser1090Pro
NM_001362177.2:c.3058T>C	NP_001349106.1:p.Ser1020Pro