Canonical Allele Identifier: CA375367134

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135771940G>T (hg19) ; chr9:g.132896553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896553G>T , CM000671.2:g.132896553G>T	GRCh38
NC_000009.11:g.135771940G>T , CM000671.1:g.135771940G>T	GRCh37
NC_000009.10:g.134761761G>T	NCBI36
NG_012386.1:g.53081C>A , LRG_486:g.53081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3174C>A	ENSP00000496126.2:p.Phe1058Leu
ENST00000490179.4:c.3177C>A	ENSP00000495533.2:p.Phe1059Leu
ENST00000642261.2:c.*1033C>A	ENSP00000494743.2:n.*1033C>A
ENST00000643275.2:c.*1117C>A	ENSP00000495598.2:n.*1117C>A
ENST00000643362.2:c.2790C>A	ENSP00000496398.2:p.Phe930Leu
ENST00000643625.2:c.*919C>A	ENSP00000495546.2:n.*919C>A
ENST00000643691.2:c.2814C>A	ENSP00000494916.2:p.Phe938Leu
ENST00000644184.2:c.3135C>A	ENSP00000495428.2:p.Phe1045Leu
ENST00000645129.2:c.3021C>A	ENSP00000493639.2:p.Phe1007Leu
ENST00000646440.2:c.3177C>A	ENSP00000495830.2:p.Phe1059Leu
ENST00000298552.9:c.3177C>A MANE Select	ENSP00000298552.3:p.Phe1059Leu
ENST00000642261.1:c.1314C>A
ENST00000642617.1:c.3174C>A	ENSP00000493773.1:p.Phe1058Leu
ENST00000642627.1:c.3159C>A	ENSP00000496772.1:p.Phe1053Leu
ENST00000642811.1:c.*2947C>A	ENSP00000495554.1:n.*2947C>A
ENST00000643072.1:c.3024C>A	ENSP00000496691.1:p.Phe1008Leu
ENST00000643275.1:c.1651C>A	ENSP00000495598.1:n.1651C>A
ENST00000643583.1:c.3162C>A	ENSP00000494685.1:p.Phe1054Leu
ENST00000643625.1:c.1054C>A	ENSP00000495546.1:n.1054C>A
ENST00000643875.1:c.3177C>A	ENSP00000495158.1:p.Phe1059Leu
ENST00000644097.1:c.3174C>A	ENSP00000494682.1:p.Phe1058Leu
ENST00000644184.1:c.1872C>A	ENSP00000495428.1:p.Phe624Leu
ENST00000644255.1:c.*2944C>A	ENSP00000493608.1:n.*2944C>A
ENST00000644319.1:n.3552C>A
ENST00000644786.1:n.836C>A
ENST00000644882.1:n.2085C>A
ENST00000645901.1:n.4028C>A
ENST00000646391.1:c.*2947C>A	ENSP00000494104.1:n.*2947C>A
ENST00000646625.1:c.3177C>A	ENSP00000496263.1:p.Phe1059Leu
ENST00000647262.1:n.2142C>A
ENST00000647279.1:c.*2416C>A	ENSP00000494502.1:n.*2416C>A
ENST00000647534.1:n.2241C>A
ENST00000298552.7:c.3177C>A	ENSP00000298552.3:p.Phe1059Leu
ENST00000440111.6:c.3177C>A	ENSP00000394524.2:p.Phe1059Leu
ENST00000545250.5:c.3024C>A	ENSP00000444017.1:p.Phe1008Leu
NM_000368.4:c.3177C>A , LRG_486t1:c.3177C>A	NP_000359.1:p.Phe1059Leu
NM_001162426.1:c.3174C>A	NP_001155898.1:p.Phe1058Leu
NM_001162427.1:c.3024C>A	NP_001155899.1:p.Phe1008Leu
XM_005272211.1:c.3177C>A	XP_005272268.1:p.Phe1059Leu
XM_006717271.1:c.3177C>A	XP_006717334.1:p.Phe1059Leu
XM_011518979.1:c.3177C>A	XP_011517281.1:p.Phe1059Leu
NM_001362177.1:c.2814C>A	NP_001349106.1:p.Phe938Leu
XM_011518979.2:c.3177C>A	XP_011517281.1:p.Phe1059Leu
XM_017015096.1:c.3177C>A	XP_016870585.1:p.Phe1059Leu
XM_017015097.1:c.3177C>A	XP_016870586.1:p.Phe1059Leu
XM_017015098.1:c.3174C>A	XP_016870587.1:p.Phe1058Leu
XM_017015100.1:c.2814C>A	XP_016870589.1:p.Phe938Leu
XM_017015101.1:c.2811C>A	XP_016870590.1:p.Phe937Leu
NM_000368.5:c.3177C>A MANE Select	NP_000359.1:p.Phe1059Leu
NM_001162426.2:c.3174C>A	NP_001155898.1:p.Phe1058Leu
NM_001162427.2:c.3024C>A	NP_001155899.1:p.Phe1008Leu
NM_001362177.2:c.2814C>A	NP_001349106.1:p.Phe938Leu