Canonical Allele Identifier: CA007024

Gene: TSC1

Linked Data

• ClinVar Variation Id: 49002
• ClinVar RCV Id: RCV000042253 ; RCV000760329 ; RCV001253033
• dbSNP Id: rs118203735
• MyVariant Identifiers: chr9:g.135772817G>A (hg19) ; chr9:g.132897430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897430G>A , CM000671.2:g.132897430G>A	GRCh38
NC_000009.11:g.135772817G>A , CM000671.1:g.135772817G>A	GRCh37
NC_000009.10:g.134762638G>A	NCBI36
NG_012386.1:g.52204C>T , LRG_486:g.52204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2803C>T	ENSP00000496126.2:p.Gln935Ter
ENST00000490179.4:c.2806C>T	ENSP00000495533.2:p.Gln936Ter
ENST00000642261.2:c.*585C>T	ENSP00000494743.2:n.*585C>T
ENST00000643275.2:c.*746C>T	ENSP00000495598.2:n.*746C>T
ENST00000643362.2:c.2419C>T	ENSP00000496398.2:p.Gln807Ter
ENST00000643625.2:c.*548C>T	ENSP00000495546.2:n.*548C>T
ENST00000643691.2:c.2443C>T	ENSP00000494916.2:p.Gln815Ter
ENST00000644184.2:c.2764C>T	ENSP00000495428.2:p.Gln922Ter
ENST00000645129.2:c.2650C>T	ENSP00000493639.2:p.Gln884Ter
ENST00000646440.2:c.2806C>T	ENSP00000495830.2:p.Gln936Ter
ENST00000298552.9:c.2806C>T MANE Select	ENSP00000298552.3:p.Gln936Ter
ENST00000642261.1:c.866C>T
ENST00000642617.1:c.2803C>T	ENSP00000493773.1:p.Gln935Ter
ENST00000642627.1:c.2788C>T	ENSP00000496772.1:p.Gln930Ter
ENST00000642811.1:c.*2576C>T	ENSP00000495554.1:n.*2576C>T
ENST00000643072.1:c.2653C>T	ENSP00000496691.1:p.Gln885Ter
ENST00000643275.1:c.1280C>T	ENSP00000495598.1:n.1280C>T
ENST00000643583.1:c.2791C>T	ENSP00000494685.1:p.Gln931Ter
ENST00000643625.1:c.683C>T	ENSP00000495546.1:n.683C>T
ENST00000643875.1:c.2806C>T	ENSP00000495158.1:p.Gln936Ter
ENST00000644097.1:c.2803C>T	ENSP00000494682.1:p.Gln935Ter
ENST00000644184.1:c.1501C>T	ENSP00000495428.1:p.Gln501Ter
ENST00000644255.1:c.*2573C>T	ENSP00000493608.1:n.*2573C>T
ENST00000644319.1:n.3181C>T
ENST00000644786.1:n.465C>T
ENST00000644882.1:n.1719C>T
ENST00000645901.1:n.3657C>T
ENST00000646391.1:c.*2576C>T	ENSP00000494104.1:n.*2576C>T
ENST00000646625.1:c.2806C>T	ENSP00000496263.1:p.Gln936Ter
ENST00000647262.1:n.1771C>T
ENST00000647279.1:c.*2045C>T	ENSP00000494502.1:n.*2045C>T
ENST00000647534.1:n.1870C>T
ENST00000298552.7:c.2806C>T	ENSP00000298552.3:p.Gln936Ter
ENST00000440111.6:c.2806C>T	ENSP00000394524.2:p.Gln936Ter
ENST00000545250.5:c.2653C>T	ENSP00000444017.1:p.Gln885Ter
NM_000368.4:c.2806C>T , LRG_486t1:c.2806C>T	NP_000359.1:p.Gln936Ter
NM_001162426.1:c.2803C>T	NP_001155898.1:p.Gln935Ter
NM_001162427.1:c.2653C>T	NP_001155899.1:p.Gln885Ter
XM_005272211.1:c.2806C>T	XP_005272268.1:p.Gln936Ter
XM_006717271.1:c.2806C>T	XP_006717334.1:p.Gln936Ter
XM_011518979.1:c.2806C>T	XP_011517281.1:p.Gln936Ter
NM_001362177.1:c.2443C>T	NP_001349106.1:p.Gln815Ter
XM_011518979.2:c.2806C>T	XP_011517281.1:p.Gln936Ter
XM_017015096.1:c.2806C>T	XP_016870585.1:p.Gln936Ter
XM_017015097.1:c.2806C>T	XP_016870586.1:p.Gln936Ter
XM_017015098.1:c.2803C>T	XP_016870587.1:p.Gln935Ter
XM_017015100.1:c.2443C>T	XP_016870589.1:p.Gln815Ter
XM_017015101.1:c.2440C>T	XP_016870590.1:p.Gln814Ter
NM_000368.5:c.2806C>T MANE Select	NP_000359.1:p.Gln936Ter
NM_001162426.2:c.2803C>T	NP_001155898.1:p.Gln935Ter
NM_001162427.2:c.2653C>T	NP_001155899.1:p.Gln885Ter
NM_001362177.2:c.2443C>T	NP_001349106.1:p.Gln815Ter