Canonical Allele Identifier: CA375370044

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776152T>G (hg19) ; chr9:g.132900765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900765T>G , CM000671.2:g.132900765T>G	GRCh38
NC_000009.11:g.135776152T>G , CM000671.1:g.135776152T>G	GRCh37
NC_000009.10:g.134765973T>G	NCBI36
NG_012386.1:g.48869A>C , LRG_486:g.48869A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2572A>C	ENSP00000496126.2:p.Asn858His
ENST00000490179.4:c.2575A>C	ENSP00000495533.2:p.Asn859His
ENST00000642261.2:c.*354A>C	ENSP00000494743.2:n.*354A>C
ENST00000643275.2:c.*515A>C	ENSP00000495598.2:n.*515A>C
ENST00000643362.2:c.2188A>C	ENSP00000496398.2:p.Asn730His
ENST00000643625.2:c.*317A>C	ENSP00000495546.2:n.*317A>C
ENST00000643691.2:c.2212A>C	ENSP00000494916.2:p.Asn738His
ENST00000644184.2:c.2533A>C	ENSP00000495428.2:p.Asn845His
ENST00000645129.2:c.2419A>C	ENSP00000493639.2:p.Asn807His
ENST00000646440.2:c.2575A>C	ENSP00000495830.2:p.Asn859His
ENST00000298552.9:c.2575A>C MANE Select	ENSP00000298552.3:p.Asn859His
ENST00000642261.1:c.635A>C
ENST00000642617.1:c.2572A>C	ENSP00000493773.1:p.Asn858His
ENST00000642627.1:c.2557A>C	ENSP00000496772.1:p.Asn853His
ENST00000642811.1:c.*2345A>C	ENSP00000495554.1:n.*2345A>C
ENST00000643072.1:c.2422A>C	ENSP00000496691.1:p.Asn808His
ENST00000643275.1:c.1049A>C	ENSP00000495598.1:n.1049A>C
ENST00000643583.1:c.2560A>C	ENSP00000494685.1:p.Asn854His
ENST00000643625.1:c.452A>C	ENSP00000495546.1:n.452A>C
ENST00000643875.1:c.2575A>C	ENSP00000495158.1:p.Asn859His
ENST00000644097.1:c.2572A>C	ENSP00000494682.1:p.Asn858His
ENST00000644184.1:c.1270A>C	ENSP00000495428.1:p.Asn424His
ENST00000644255.1:c.*2342A>C	ENSP00000493608.1:n.*2342A>C
ENST00000644319.1:n.2950A>C
ENST00000644786.1:n.234A>C
ENST00000644882.1:n.1488A>C
ENST00000645901.1:n.3426A>C
ENST00000646391.1:c.*2345A>C	ENSP00000494104.1:n.*2345A>C
ENST00000646625.1:c.2575A>C	ENSP00000496263.1:p.Asn859His
ENST00000647262.1:n.1540A>C
ENST00000647279.1:c.*1814A>C	ENSP00000494502.1:n.*1814A>C
ENST00000647506.1:n.3451A>C
ENST00000647534.1:n.1639A>C
ENST00000298552.7:c.2575A>C	ENSP00000298552.3:p.Asn859His
ENST00000440111.6:c.2575A>C	ENSP00000394524.2:p.Asn859His
ENST00000545250.5:c.2422A>C	ENSP00000444017.1:p.Asn808His
NM_000368.4:c.2575A>C , LRG_486t1:c.2575A>C	NP_000359.1:p.Asn859His
NM_001162426.1:c.2572A>C	NP_001155898.1:p.Asn858His
NM_001162427.1:c.2422A>C	NP_001155899.1:p.Asn808His
XM_005272211.1:c.2575A>C	XP_005272268.1:p.Asn859His
XM_006717271.1:c.2575A>C	XP_006717334.1:p.Asn859His
XM_011518979.1:c.2575A>C	XP_011517281.1:p.Asn859His
NM_001362177.1:c.2212A>C	NP_001349106.1:p.Asn738His
XM_011518979.2:c.2575A>C	XP_011517281.1:p.Asn859His
XM_017015096.1:c.2575A>C	XP_016870585.1:p.Asn859His
XM_017015097.1:c.2575A>C	XP_016870586.1:p.Asn859His
XM_017015098.1:c.2572A>C	XP_016870587.1:p.Asn858His
XM_017015100.1:c.2212A>C	XP_016870589.1:p.Asn738His
XM_017015101.1:c.2209A>C	XP_016870590.1:p.Asn737His
NM_000368.5:c.2575A>C MANE Select	NP_000359.1:p.Asn859His
NM_001162426.2:c.2572A>C	NP_001155898.1:p.Asn858His
NM_001162427.2:c.2422A>C	NP_001155899.1:p.Asn808His
NM_001362177.2:c.2212A>C	NP_001349106.1:p.Asn738His