Canonical Allele Identifier: CA375369949

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776132T>A (hg19) ; chr9:g.132900745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900745T>A , CM000671.2:g.132900745T>A	GRCh38
NC_000009.11:g.135776132T>A , CM000671.1:g.135776132T>A	GRCh37
NC_000009.10:g.134765953T>A	NCBI36
NG_012386.1:g.48889A>T , LRG_486:g.48889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2592A>T	ENSP00000496126.2:p.Gln864His
ENST00000490179.4:c.2595A>T	ENSP00000495533.2:p.Gln865His
ENST00000642261.2:c.*374A>T	ENSP00000494743.2:n.*374A>T
ENST00000643275.2:c.*535A>T	ENSP00000495598.2:n.*535A>T
ENST00000643362.2:c.2208A>T	ENSP00000496398.2:p.Gln736His
ENST00000643625.2:c.*337A>T	ENSP00000495546.2:n.*337A>T
ENST00000643691.2:c.2232A>T	ENSP00000494916.2:p.Gln744His
ENST00000644184.2:c.2553A>T	ENSP00000495428.2:p.Gln851His
ENST00000645129.2:c.2439A>T	ENSP00000493639.2:p.Gln813His
ENST00000646440.2:c.2595A>T	ENSP00000495830.2:p.Gln865His
ENST00000298552.9:c.2595A>T MANE Select	ENSP00000298552.3:p.Gln865His
ENST00000642261.1:c.655A>T
ENST00000642617.1:c.2592A>T	ENSP00000493773.1:p.Gln864His
ENST00000642627.1:c.2577A>T	ENSP00000496772.1:p.Gln859His
ENST00000642811.1:c.*2365A>T	ENSP00000495554.1:n.*2365A>T
ENST00000643072.1:c.2442A>T	ENSP00000496691.1:p.Gln814His
ENST00000643275.1:c.1069A>T	ENSP00000495598.1:n.1069A>T
ENST00000643583.1:c.2580A>T	ENSP00000494685.1:p.Gln860His
ENST00000643625.1:c.472A>T	ENSP00000495546.1:n.472A>T
ENST00000643875.1:c.2595A>T	ENSP00000495158.1:p.Gln865His
ENST00000644097.1:c.2592A>T	ENSP00000494682.1:p.Gln864His
ENST00000644184.1:c.1290A>T	ENSP00000495428.1:p.Gln430His
ENST00000644255.1:c.*2362A>T	ENSP00000493608.1:n.*2362A>T
ENST00000644319.1:n.2970A>T
ENST00000644786.1:n.254A>T
ENST00000644882.1:n.1508A>T
ENST00000645901.1:n.3446A>T
ENST00000646391.1:c.*2365A>T	ENSP00000494104.1:n.*2365A>T
ENST00000646625.1:c.2595A>T	ENSP00000496263.1:p.Gln865His
ENST00000647262.1:n.1560A>T
ENST00000647279.1:c.*1834A>T	ENSP00000494502.1:n.*1834A>T
ENST00000647506.1:n.3471A>T
ENST00000647534.1:n.1659A>T
ENST00000298552.7:c.2595A>T	ENSP00000298552.3:p.Gln865His
ENST00000440111.6:c.2595A>T	ENSP00000394524.2:p.Gln865His
ENST00000545250.5:c.2442A>T	ENSP00000444017.1:p.Gln814His
NM_000368.4:c.2595A>T , LRG_486t1:c.2595A>T	NP_000359.1:p.Gln865His
NM_001162426.1:c.2592A>T	NP_001155898.1:p.Gln864His
NM_001162427.1:c.2442A>T	NP_001155899.1:p.Gln814His
XM_005272211.1:c.2595A>T	XP_005272268.1:p.Gln865His
XM_006717271.1:c.2595A>T	XP_006717334.1:p.Gln865His
XM_011518979.1:c.2595A>T	XP_011517281.1:p.Gln865His
NM_001362177.1:c.2232A>T	NP_001349106.1:p.Gln744His
XM_011518979.2:c.2595A>T	XP_011517281.1:p.Gln865His
XM_017015096.1:c.2595A>T	XP_016870585.1:p.Gln865His
XM_017015097.1:c.2595A>T	XP_016870586.1:p.Gln865His
XM_017015098.1:c.2592A>T	XP_016870587.1:p.Gln864His
XM_017015100.1:c.2232A>T	XP_016870589.1:p.Gln744His
XM_017015101.1:c.2229A>T	XP_016870590.1:p.Gln743His
NM_000368.5:c.2595A>T MANE Select	NP_000359.1:p.Gln865His
NM_001162426.2:c.2592A>T	NP_001155898.1:p.Gln864His
NM_001162427.2:c.2442A>T	NP_001155899.1:p.Gln814His
NM_001362177.2:c.2232A>T	NP_001349106.1:p.Gln744His