Canonical Allele Identifier: CA467594431

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776105T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900718T>A , CM000671.2:g.132900718T>A	GRCh38
NC_000009.11:g.135776105T>A , CM000671.1:g.135776105T>A	GRCh37
NC_000009.10:g.134765926T>A	NCBI36
NG_012386.1:g.48916A>T , LRG_486:g.48916A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2619A>T	ENSP00000496126.2:p.Thr873=
ENST00000490179.4:c.2622A>T	ENSP00000495533.2:p.Thr874=
ENST00000642261.2:c.*401A>T	ENSP00000494743.2:n.*401A>T
ENST00000643275.2:c.*562A>T	ENSP00000495598.2:n.*562A>T
ENST00000643362.2:c.2235A>T	ENSP00000496398.2:p.Thr745=
ENST00000643625.2:c.*364A>T	ENSP00000495546.2:n.*364A>T
ENST00000643691.2:c.2259A>T	ENSP00000494916.2:p.Thr753=
ENST00000644184.2:c.2580A>T	ENSP00000495428.2:p.Thr860=
ENST00000645129.2:c.2466A>T	ENSP00000493639.2:p.Thr822=
ENST00000646440.2:c.2622A>T	ENSP00000495830.2:p.Thr874=
ENST00000298552.9:c.2622A>T MANE Select	ENSP00000298552.3:p.Thr874=
ENST00000642261.1:c.682A>T
ENST00000642617.1:c.2619A>T	ENSP00000493773.1:p.Thr873=
ENST00000642627.1:c.2604A>T	ENSP00000496772.1:p.Thr868=
ENST00000642811.1:c.*2392A>T	ENSP00000495554.1:n.*2392A>T
ENST00000643072.1:c.2469A>T	ENSP00000496691.1:p.Thr823=
ENST00000643275.1:c.1096A>T	ENSP00000495598.1:n.1096A>T
ENST00000643583.1:c.2607A>T	ENSP00000494685.1:p.Thr869=
ENST00000643625.1:c.499A>T	ENSP00000495546.1:n.499A>T
ENST00000643875.1:c.2622A>T	ENSP00000495158.1:p.Thr874=
ENST00000644097.1:c.2619A>T	ENSP00000494682.1:p.Thr873=
ENST00000644184.1:c.1317A>T	ENSP00000495428.1:p.Thr439=
ENST00000644255.1:c.*2389A>T	ENSP00000493608.1:n.*2389A>T
ENST00000644319.1:n.2997A>T
ENST00000644786.1:n.281A>T
ENST00000644882.1:n.1535A>T
ENST00000645901.1:n.3473A>T
ENST00000646391.1:c.*2392A>T	ENSP00000494104.1:n.*2392A>T
ENST00000646625.1:c.2622A>T	ENSP00000496263.1:p.Thr874=
ENST00000647262.1:n.1587A>T
ENST00000647279.1:c.*1861A>T	ENSP00000494502.1:n.*1861A>T
ENST00000647506.1:n.3498A>T
ENST00000647534.1:n.1686A>T
ENST00000298552.7:c.2622A>T	ENSP00000298552.3:p.Thr874=
ENST00000440111.6:c.2622A>T	ENSP00000394524.2:p.Thr874=
ENST00000545250.5:c.2469A>T	ENSP00000444017.1:p.Thr823=
NM_000368.4:c.2622A>T , LRG_486t1:c.2622A>T	NP_000359.1:p.Thr874=
NM_001162426.1:c.2619A>T	NP_001155898.1:p.Thr873=
NM_001162427.1:c.2469A>T	NP_001155899.1:p.Thr823=
XM_005272211.1:c.2622A>T	XP_005272268.1:p.Thr874=
XM_006717271.1:c.2622A>T	XP_006717334.1:p.Thr874=
XM_011518979.1:c.2622A>T	XP_011517281.1:p.Thr874=
NM_001362177.1:c.2259A>T	NP_001349106.1:p.Thr753=
XM_011518979.2:c.2622A>T	XP_011517281.1:p.Thr874=
XM_017015096.1:c.2622A>T	XP_016870585.1:p.Thr874=
XM_017015097.1:c.2622A>T	XP_016870586.1:p.Thr874=
XM_017015098.1:c.2619A>T	XP_016870587.1:p.Thr873=
XM_017015100.1:c.2259A>T	XP_016870589.1:p.Thr753=
XM_017015101.1:c.2256A>T	XP_016870590.1:p.Thr752=
NM_000368.5:c.2622A>T MANE Select	NP_000359.1:p.Thr874=
NM_001162426.2:c.2619A>T	NP_001155898.1:p.Thr873=
NM_001162427.2:c.2469A>T	NP_001155899.1:p.Thr823=
NM_001362177.2:c.2259A>T	NP_001349106.1:p.Thr753=