Canonical Allele Identifier: CA375359090

Gene: TSC1

Linked Data

• ClinVar Variation Id: 489349
• ClinVar RCV Id: RCV000579359 ; RCV001853844
• dbSNP Id: rs781371665
• COSMIC: COSM753312
• MyVariant Identifiers: chr9:g.135778003G>A (hg19) ; chr9:g.132902616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902616G>A , CM000671.2:g.132902616G>A	GRCh38
NC_000009.11:g.135778003G>A , CM000671.1:g.135778003G>A	GRCh37
NC_000009.10:g.134767824G>A	NCBI36
NG_012386.1:g.47018C>T , LRG_486:g.47018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2377C>T	ENSP00000496126.2:p.Gln793Ter
ENST00000490179.4:c.2380C>T	ENSP00000495533.2:p.Gln794Ter
ENST00000642261.2:c.*159C>T	ENSP00000494743.2:n.*159C>T
ENST00000643275.2:c.*320C>T	ENSP00000495598.2:n.*320C>T
ENST00000643362.2:c.1993C>T	ENSP00000496398.2:p.Gln665Ter
ENST00000643625.2:c.*122C>T	ENSP00000495546.2:n.*122C>T
ENST00000643691.2:c.2017C>T	ENSP00000494916.2:p.Gln673Ter
ENST00000644184.2:c.2380C>T	ENSP00000495428.2:p.Gln794Ter
ENST00000645129.2:c.2224C>T	ENSP00000493639.2:p.Gln742Ter
ENST00000646440.2:c.2380C>T	ENSP00000495830.2:p.Gln794Ter
ENST00000298552.9:c.2380C>T MANE Select	ENSP00000298552.3:p.Gln794Ter
ENST00000642261.1:c.440C>T
ENST00000642617.1:c.2377C>T	ENSP00000493773.1:p.Gln793Ter
ENST00000642627.1:c.2362C>T	ENSP00000496772.1:p.Gln788Ter
ENST00000642811.1:c.*2150C>T	ENSP00000495554.1:n.*2150C>T
ENST00000643072.1:c.2227C>T	ENSP00000496691.1:p.Gln743Ter
ENST00000643275.1:c.854C>T	ENSP00000495598.1:n.854C>T
ENST00000643583.1:c.2365C>T	ENSP00000494685.1:p.Gln789Ter
ENST00000643625.1:c.257C>T	ENSP00000495546.1:n.257C>T
ENST00000643875.1:c.2380C>T	ENSP00000495158.1:p.Gln794Ter
ENST00000644097.1:c.2377C>T	ENSP00000494682.1:p.Gln793Ter
ENST00000644184.1:c.1117C>T	ENSP00000495428.1:p.Gln373Ter
ENST00000644255.1:c.*2147C>T	ENSP00000493608.1:n.*2147C>T
ENST00000644319.1:n.2755C>T
ENST00000644882.1:n.1335C>T
ENST00000645901.1:n.3231C>T
ENST00000646391.1:c.*2150C>T	ENSP00000494104.1:n.*2150C>T
ENST00000646625.1:c.2380C>T	ENSP00000496263.1:p.Gln794Ter
ENST00000647262.1:n.1345C>T
ENST00000647279.1:c.*1619C>T	ENSP00000494502.1:n.*1619C>T
ENST00000647506.1:n.3256C>T
ENST00000647534.1:n.1444C>T
ENST00000298552.7:c.2380C>T	ENSP00000298552.3:p.Gln794Ter
ENST00000440111.6:c.2380C>T	ENSP00000394524.2:p.Gln794Ter
ENST00000545250.5:c.2227C>T	ENSP00000444017.1:p.Gln743Ter
NM_000368.4:c.2380C>T , LRG_486t1:c.2380C>T	NP_000359.1:p.Gln794Ter
NM_001162426.1:c.2377C>T	NP_001155898.1:p.Gln793Ter
NM_001162427.1:c.2227C>T	NP_001155899.1:p.Gln743Ter
XM_005272211.1:c.2380C>T	XP_005272268.1:p.Gln794Ter
XM_006717271.1:c.2380C>T	XP_006717334.1:p.Gln794Ter
XM_011518979.1:c.2380C>T	XP_011517281.1:p.Gln794Ter
NM_001362177.1:c.2017C>T	NP_001349106.1:p.Gln673Ter
XM_011518979.2:c.2380C>T	XP_011517281.1:p.Gln794Ter
XM_017015096.1:c.2380C>T	XP_016870585.1:p.Gln794Ter
XM_017015097.1:c.2380C>T	XP_016870586.1:p.Gln794Ter
XM_017015098.1:c.2377C>T	XP_016870587.1:p.Gln793Ter
XM_017015100.1:c.2017C>T	XP_016870589.1:p.Gln673Ter
XM_017015101.1:c.2014C>T	XP_016870590.1:p.Gln672Ter
NM_000368.5:c.2380C>T MANE Select	NP_000359.1:p.Gln794Ter
NM_001162426.2:c.2377C>T	NP_001155898.1:p.Gln793Ter
NM_001162427.2:c.2227C>T	NP_001155899.1:p.Gln743Ter
NM_001362177.2:c.2017C>T	NP_001349106.1:p.Gln673Ter