Canonical Allele Identifier: CA200926420

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897269C>T , CM000671.2:g.132897269C>T	GRCh38
NC_000009.11:g.135772656C>T , CM000671.1:g.135772656C>T	GRCh37
NC_000009.10:g.134762477C>T	NCBI36
NG_012386.1:g.52365G>A , LRG_486:g.52365G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2890G>A MANE Select	NP_000359.1:p.Asp964Asn
ENST00000298552.9:c.2890G>A MANE Select	ENSP00000298552.3:p.Asp964Asn
NM_000368.4:c.2890G>A , LRG_486t1:c.2890G>A	NP_000359.1:p.Asp964Asn
NM_001162426.1:c.2887G>A	NP_001155898.1:p.Asp963Asn
NM_001162426.2:c.2887G>A	NP_001155898.1:p.Asp963Asn
NM_001162427.1:c.2737G>A	NP_001155899.1:p.Asp913Asn
NM_001162427.2:c.2737G>A	NP_001155899.1:p.Asp913Asn
NM_001362177.1:c.2527G>A	NP_001349106.1:p.Asp843Asn
NM_001362177.2:c.2527G>A	NP_001349106.1:p.Asp843Asn
ENST00000298552.7:c.2890G>A	ENSP00000298552.3:p.Asp964Asn
ENST00000440111.6:c.2890G>A	ENSP00000394524.2:p.Asp964Asn
ENST00000475903.7:c.2887G>A	ENSP00000496126.2:p.Asp963Asn
ENST00000490179.4:c.2890G>A	ENSP00000495533.2:p.Asp964Asn
ENST00000545250.5:c.2737G>A	ENSP00000444017.1:p.Asp913Asn
ENST00000642261.1:c.1027G>A
ENST00000642261.2:c.*746G>A	ENSP00000494743.2:n.*746G>A
ENST00000642617.1:c.2887G>A	ENSP00000493773.1:p.Asp963Asn
ENST00000642627.1:c.2872G>A	ENSP00000496772.1:p.Asp958Asn
ENST00000642811.1:c.*2660G>A	ENSP00000495554.1:n.*2660G>A
ENST00000643072.1:c.2737G>A	ENSP00000496691.1:p.Asp913Asn
ENST00000643275.1:c.1364G>A	ENSP00000495598.1:n.1364G>A
ENST00000643275.2:c.*830G>A	ENSP00000495598.2:n.*830G>A
ENST00000643362.2:c.2503G>A	ENSP00000496398.2:p.Asp835Asn
ENST00000643583.1:c.2875G>A	ENSP00000494685.1:p.Asp959Asn
ENST00000643625.1:c.767G>A	ENSP00000495546.1:n.767G>A
ENST00000643625.2:c.*632G>A	ENSP00000495546.2:n.*632G>A
ENST00000643691.2:c.2527G>A	ENSP00000494916.2:p.Asp843Asn
ENST00000643875.1:c.2890G>A	ENSP00000495158.1:p.Asp964Asn
ENST00000644097.1:c.2887G>A	ENSP00000494682.1:p.Asp963Asn
ENST00000644184.1:c.1585G>A	ENSP00000495428.1:p.Asp529Asn
ENST00000644184.2:c.2848G>A	ENSP00000495428.2:p.Asp950Asn
ENST00000644255.1:c.*2657G>A	ENSP00000493608.1:n.*2657G>A
ENST00000644319.1:n.3265G>A
ENST00000644786.1:n.549G>A
ENST00000644882.1:n.1798G>A
ENST00000645129.2:c.2734G>A	ENSP00000493639.2:p.Asp912Asn
ENST00000645901.1:n.3741G>A
ENST00000646391.1:c.*2660G>A	ENSP00000494104.1:n.*2660G>A
ENST00000646440.2:c.2890G>A	ENSP00000495830.2:p.Asp964Asn
ENST00000646625.1:c.2890G>A	ENSP00000496263.1:p.Asp964Asn
ENST00000647262.1:n.1855G>A
ENST00000647279.1:c.*2129G>A	ENSP00000494502.1:n.*2129G>A
ENST00000647534.1:n.1954G>A
XM_005272211.1:c.2890G>A	XP_005272268.1:p.Asp964Asn
XM_006717271.1:c.2890G>A	XP_006717334.1:p.Asp964Asn
XM_011518979.1:c.2890G>A	XP_011517281.1:p.Asp964Asn
XM_011518979.2:c.2890G>A	XP_011517281.1:p.Asp964Asn
XM_017015096.1:c.2890G>A	XP_016870585.1:p.Asp964Asn
XM_017015097.1:c.2890G>A	XP_016870586.1:p.Asp964Asn
XM_017015098.1:c.2887G>A	XP_016870587.1:p.Asp963Asn
XM_017015100.1:c.2527G>A	XP_016870589.1:p.Asp843Asn
XM_017015101.1:c.2524G>A	XP_016870590.1:p.Asp842Asn