Canonical Allele Identifier: CA375360985

Gene: TSC1

Linked Data

• dbSNP Id: rs2131765302
• MyVariant Identifiers: chr9:g.135779116C>A (hg19) ; chr9:g.132903729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903729C>A , CM000671.2:g.132903729C>A	GRCh38
NC_000009.11:g.135779116C>A , CM000671.1:g.135779116C>A	GRCh37
NC_000009.10:g.134768937C>A	NCBI36
NG_012386.1:g.45905G>T , LRG_486:g.45905G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2127G>T	ENSP00000496126.2:p.Gln709His
ENST00000490179.4:c.2130G>T	ENSP00000495533.2:p.Gln710His
ENST00000642261.2:c.2130G>T	ENSP00000494743.2:p.Gln710His
ENST00000643275.2:c.*70G>T	ENSP00000495598.2:n.*70G>T
ENST00000643362.2:c.1743G>T	ENSP00000496398.2:p.Gln581His
ENST00000643625.2:c.2041+682G>T	ENSP00000495546.2:n.2041+682G>T
ENST00000643691.2:c.1767G>T	ENSP00000494916.2:p.Gln589His
ENST00000644184.2:c.2130G>T	ENSP00000495428.2:p.Gln710His
ENST00000645129.2:c.1974G>T	ENSP00000493639.2:p.Gln658His
ENST00000646440.2:c.2130G>T	ENSP00000495830.2:p.Gln710His
ENST00000298552.9:c.2130G>T MANE Select	ENSP00000298552.3:p.Gln710His
ENST00000642261.1:c.194G>T
ENST00000642617.1:c.2127G>T	ENSP00000493773.1:p.Gln709His
ENST00000642627.1:c.2112G>T	ENSP00000496772.1:p.Gln704His
ENST00000642811.1:c.*1900G>T	ENSP00000495554.1:n.*1900G>T
ENST00000643072.1:c.1977G>T	ENSP00000496691.1:p.Gln659His
ENST00000643275.1:c.604G>T	ENSP00000495598.1:n.604G>T
ENST00000643583.1:c.2115G>T	ENSP00000494685.1:p.Gln705His
ENST00000643625.1:c.85+682G>T	ENSP00000495546.1:n.85+682G>T
ENST00000643875.1:c.2130G>T	ENSP00000495158.1:p.Gln710His
ENST00000644097.1:c.2127G>T	ENSP00000494682.1:p.Gln709His
ENST00000644184.1:c.867G>T	ENSP00000495428.1:p.Gln289His
ENST00000644255.1:c.*1897G>T	ENSP00000493608.1:n.*1897G>T
ENST00000644319.1:n.2505G>T
ENST00000644882.1:n.1085G>T
ENST00000645901.1:n.2981G>T
ENST00000646391.1:c.*1900G>T	ENSP00000494104.1:n.*1900G>T
ENST00000646625.1:c.2130G>T	ENSP00000496263.1:p.Gln710His
ENST00000647262.1:n.1095G>T
ENST00000647279.1:c.*1369G>T	ENSP00000494502.1:n.*1369G>T
ENST00000647506.1:n.3006G>T
ENST00000647534.1:n.1194G>T
ENST00000298552.7:c.2130G>T	ENSP00000298552.3:p.Gln710His
ENST00000440111.6:c.2130G>T	ENSP00000394524.2:p.Gln710His
ENST00000545250.5:c.1977G>T	ENSP00000444017.1:p.Gln659His
NM_000368.4:c.2130G>T , LRG_486t1:c.2130G>T	NP_000359.1:p.Gln710His
NM_001162426.1:c.2127G>T	NP_001155898.1:p.Gln709His
NM_001162427.1:c.1977G>T	NP_001155899.1:p.Gln659His
XM_005272211.1:c.2130G>T	XP_005272268.1:p.Gln710His
XM_006717271.1:c.2130G>T	XP_006717334.1:p.Gln710His
XM_011518979.1:c.2130G>T	XP_011517281.1:p.Gln710His
NM_001362177.1:c.1767G>T	NP_001349106.1:p.Gln589His
XM_011518979.2:c.2130G>T	XP_011517281.1:p.Gln710His
XM_017015096.1:c.2130G>T	XP_016870585.1:p.Gln710His
XM_017015097.1:c.2130G>T	XP_016870586.1:p.Gln710His
XM_017015098.1:c.2127G>T	XP_016870587.1:p.Gln709His
XM_017015100.1:c.1767G>T	XP_016870589.1:p.Gln589His
XM_017015101.1:c.1764G>T	XP_016870590.1:p.Gln588His
NM_000368.5:c.2130G>T MANE Select	NP_000359.1:p.Gln710His
NM_001162426.2:c.2127G>T	NP_001155898.1:p.Gln709His
NM_001162427.2:c.1977G>T	NP_001155899.1:p.Gln659His
NM_001362177.2:c.1767G>T	NP_001349106.1:p.Gln589His