Canonical Allele Identifier: CA319255

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896698G>T , CM000671.2:g.132896698G>T	GRCh38
NC_000009.11:g.135772085G>T , CM000671.1:g.135772085G>T	GRCh37
NC_000009.10:g.134761906G>T	NCBI36
NG_012386.1:g.52936C>A , LRG_486:g.52936C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.3032C>A MANE Select	NP_000359.1:p.Ala1011Glu
ENST00000298552.9:c.3032C>A MANE Select	ENSP00000298552.3:p.Ala1011Glu
NM_000368.4:c.3032C>A , LRG_486t1:c.3032C>A	NP_000359.1:p.Ala1011Glu
NM_001162426.1:c.3029C>A	NP_001155898.1:p.Ala1010Glu
NM_001162426.2:c.3029C>A	NP_001155898.1:p.Ala1010Glu
NM_001162427.1:c.2879C>A	NP_001155899.1:p.Ala960Glu
NM_001162427.2:c.2879C>A	NP_001155899.1:p.Ala960Glu
NM_001362177.1:c.2669C>A	NP_001349106.1:p.Ala890Glu
NM_001362177.2:c.2669C>A	NP_001349106.1:p.Ala890Glu
ENST00000298552.7:c.3032C>A	ENSP00000298552.3:p.Ala1011Glu
ENST00000440111.6:c.3032C>A	ENSP00000394524.2:p.Ala1011Glu
ENST00000475903.7:c.3029C>A	ENSP00000496126.2:p.Ala1010Glu
ENST00000490179.4:c.3032C>A	ENSP00000495533.2:p.Ala1011Glu
ENST00000545250.5:c.2879C>A	ENSP00000444017.1:p.Ala960Glu
ENST00000642261.1:c.1169C>A
ENST00000642261.2:c.*888C>A	ENSP00000494743.2:n.*888C>A
ENST00000642617.1:c.3029C>A	ENSP00000493773.1:p.Ala1010Glu
ENST00000642627.1:c.3014C>A	ENSP00000496772.1:p.Ala1005Glu
ENST00000642811.1:c.*2802C>A	ENSP00000495554.1:n.*2802C>A
ENST00000643072.1:c.2879C>A	ENSP00000496691.1:p.Ala960Glu
ENST00000643275.1:c.1506C>A	ENSP00000495598.1:n.1506C>A
ENST00000643275.2:c.*972C>A	ENSP00000495598.2:n.*972C>A
ENST00000643362.2:c.2645C>A	ENSP00000496398.2:p.Ala882Glu
ENST00000643583.1:c.3017C>A	ENSP00000494685.1:p.Ala1006Glu
ENST00000643625.1:c.909C>A	ENSP00000495546.1:n.909C>A
ENST00000643625.2:c.*774C>A	ENSP00000495546.2:n.*774C>A
ENST00000643691.2:c.2669C>A	ENSP00000494916.2:p.Ala890Glu
ENST00000643875.1:c.3032C>A	ENSP00000495158.1:p.Ala1011Glu
ENST00000644097.1:c.3029C>A	ENSP00000494682.1:p.Ala1010Glu
ENST00000644184.1:c.1727C>A	ENSP00000495428.1:p.Ala576Glu
ENST00000644184.2:c.2990C>A	ENSP00000495428.2:p.Ala997Glu
ENST00000644255.1:c.*2799C>A	ENSP00000493608.1:n.*2799C>A
ENST00000644319.1:n.3407C>A
ENST00000644786.1:n.691C>A
ENST00000644882.1:n.1940C>A
ENST00000645129.2:c.2876C>A	ENSP00000493639.2:p.Ala959Glu
ENST00000645901.1:n.3883C>A
ENST00000646391.1:c.*2802C>A	ENSP00000494104.1:n.*2802C>A
ENST00000646440.2:c.3032C>A	ENSP00000495830.2:p.Ala1011Glu
ENST00000646625.1:c.3032C>A	ENSP00000496263.1:p.Ala1011Glu
ENST00000647262.1:n.1997C>A
ENST00000647279.1:c.*2271C>A	ENSP00000494502.1:n.*2271C>A
ENST00000647534.1:n.2096C>A
XM_005272211.1:c.3032C>A	XP_005272268.1:p.Ala1011Glu
XM_006717271.1:c.3032C>A	XP_006717334.1:p.Ala1011Glu
XM_011518979.1:c.3032C>A	XP_011517281.1:p.Ala1011Glu
XM_011518979.2:c.3032C>A	XP_011517281.1:p.Ala1011Glu
XM_017015096.1:c.3032C>A	XP_016870585.1:p.Ala1011Glu
XM_017015097.1:c.3032C>A	XP_016870586.1:p.Ala1011Glu
XM_017015098.1:c.3029C>A	XP_016870587.1:p.Ala1010Glu
XM_017015100.1:c.2669C>A	XP_016870589.1:p.Ala890Glu
XM_017015101.1:c.2666C>A	XP_016870590.1:p.Ala889Glu