Canonical Allele Identifier: CA1882413502

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905641A= , CM000671.2:g.132905641A=	GRCh38
NC_000009.11:g.135781028A= , CM000671.1:g.135781028A=	GRCh37
NC_000009.10:g.134770849A=	NCBI36
NG_012386.1:g.43993T= , LRG_486:g.43993T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1934T=	ENSP00000496126.2:p.Met645=
ENST00000490179.4:c.1937T=	ENSP00000495533.2:p.Met646=
ENST00000642261.2:c.1937T=	ENSP00000494743.2:p.Met646=
ENST00000643275.2:c.1937T=	ENSP00000495598.2:p.Met646=
ENST00000643362.2:c.1550T=	ENSP00000496398.2:p.Met517=
ENST00000643625.2:c.1937T=	ENSP00000495546.2:p.Met646=
ENST00000643691.2:c.1574T=	ENSP00000494916.2:p.Met525=
ENST00000644184.2:c.1937T=	ENSP00000495428.2:p.Met646=
ENST00000645129.2:c.1781T=	ENSP00000493639.2:p.Met594=
ENST00000646440.2:c.1937T=	ENSP00000495830.2:p.Met646=
ENST00000298552.9:c.1937T= MANE Select	ENSP00000298552.3:p.Met646=
ENST00000642261.1:c.1T=
ENST00000642617.1:c.1934T=	ENSP00000493773.1:p.Met645=
ENST00000642627.1:c.1934T=	ENSP00000496772.1:p.Met645=
ENST00000642811.1:c.*1707T=	ENSP00000495554.1:n.*1707T=
ENST00000643072.1:c.1784T=	ENSP00000496691.1:p.Met595=
ENST00000643275.1:c.455T=	ENSP00000495598.1:p.Met152=
ENST00000643583.1:c.1937T=	ENSP00000494685.1:p.Met646=
ENST00000643875.1:c.1937T=	ENSP00000495158.1:p.Met646=
ENST00000644097.1:c.1934T=	ENSP00000494682.1:p.Met645=
ENST00000644184.1:c.674T=	ENSP00000495428.1:p.Met225=
ENST00000644255.1:c.*1704T=	ENSP00000493608.1:n.*1704T=
ENST00000644319.1:n.2312T=
ENST00000644882.1:n.892T=
ENST00000645901.1:n.2788T=
ENST00000646391.1:c.*1707T=	ENSP00000494104.1:n.*1707T=
ENST00000646625.1:c.1937T=	ENSP00000496263.1:p.Met646=
ENST00000647262.1:n.902T=
ENST00000647279.1:c.*1176T=	ENSP00000494502.1:n.*1176T=
ENST00000647506.1:n.2813T=
ENST00000647534.1:n.1001T=
ENST00000298552.7:c.1937T=	ENSP00000298552.3:p.Met646=
ENST00000440111.6:c.1937T=	ENSP00000394524.2:p.Met646=
ENST00000545250.5:c.1784T=	ENSP00000444017.1:p.Met595=
NM_000368.4:c.1937T= , LRG_486t1:c.1937T=	NP_000359.1:p.Met646=
NM_001162426.1:c.1934T=	NP_001155898.1:p.Met645=
NM_001162427.1:c.1784T=	NP_001155899.1:p.Met595=
XM_005272211.1:c.1937T=	XP_005272268.1:p.Met646=
XM_006717271.1:c.1937T=	XP_006717334.1:p.Met646=
XM_006717272.2:c.1937T=	XP_006717335.1:p.Met646=
XM_011518979.1:c.1937T=	XP_011517281.1:p.Met646=
NM_001362177.1:c.1574T=	NP_001349106.1:p.Met525=
XM_011518979.2:c.1937T=	XP_011517281.1:p.Met646=
XM_017015096.1:c.1937T=	XP_016870585.1:p.Met646=
XM_017015097.1:c.1937T=	XP_016870586.1:p.Met646=
XM_017015098.1:c.1934T=	XP_016870587.1:p.Met645=
XM_017015100.1:c.1574T=	XP_016870589.1:p.Met525=
XM_017015101.1:c.1571T=	XP_016870590.1:p.Met524=
NM_000368.5:c.1937T= MANE Select	NP_000359.1:p.Met646=
NM_001162426.2:c.1934T=	NP_001155898.1:p.Met645=
NM_001162427.2:c.1784T=	NP_001155899.1:p.Met595=
NM_001362177.2:c.1574T=	NP_001349106.1:p.Met525=