Canonical Allele Identifier: CA375367580

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896656C>T , CM000671.2:g.132896656C>T	GRCh38
NC_000009.11:g.135772043C>T , CM000671.1:g.135772043C>T	GRCh37
NC_000009.10:g.134761864C>T	NCBI36
NG_012386.1:g.52978G>A , LRG_486:g.52978G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.3074G>A MANE Select	NP_000359.1:p.Ser1025Asn
ENST00000298552.9:c.3074G>A MANE Select	ENSP00000298552.3:p.Ser1025Asn
NM_000368.4:c.3074G>A , LRG_486t1:c.3074G>A	NP_000359.1:p.Ser1025Asn
NM_001162426.1:c.3071G>A	NP_001155898.1:p.Ser1024Asn
NM_001162426.2:c.3071G>A	NP_001155898.1:p.Ser1024Asn
NM_001162427.1:c.2921G>A	NP_001155899.1:p.Ser974Asn
NM_001162427.2:c.2921G>A	NP_001155899.1:p.Ser974Asn
NM_001362177.1:c.2711G>A	NP_001349106.1:p.Ser904Asn
NM_001362177.2:c.2711G>A	NP_001349106.1:p.Ser904Asn
ENST00000298552.7:c.3074G>A	ENSP00000298552.3:p.Ser1025Asn
ENST00000440111.6:c.3074G>A	ENSP00000394524.2:p.Ser1025Asn
ENST00000475903.7:c.3071G>A	ENSP00000496126.2:p.Ser1024Asn
ENST00000490179.4:c.3074G>A	ENSP00000495533.2:p.Ser1025Asn
ENST00000545250.5:c.2921G>A	ENSP00000444017.1:p.Ser974Asn
ENST00000642261.1:c.1211G>A
ENST00000642261.2:c.*930G>A	ENSP00000494743.2:n.*930G>A
ENST00000642617.1:c.3071G>A	ENSP00000493773.1:p.Ser1024Asn
ENST00000642627.1:c.3056G>A	ENSP00000496772.1:p.Ser1019Asn
ENST00000642811.1:c.*2844G>A	ENSP00000495554.1:n.*2844G>A
ENST00000643072.1:c.2921G>A	ENSP00000496691.1:p.Ser974Asn
ENST00000643275.1:c.1548G>A	ENSP00000495598.1:n.1548G>A
ENST00000643275.2:c.*1014G>A	ENSP00000495598.2:n.*1014G>A
ENST00000643362.2:c.2687G>A	ENSP00000496398.2:p.Ser896Asn
ENST00000643583.1:c.3059G>A	ENSP00000494685.1:p.Ser1020Asn
ENST00000643625.1:c.951G>A	ENSP00000495546.1:n.951G>A
ENST00000643625.2:c.*816G>A	ENSP00000495546.2:n.*816G>A
ENST00000643691.2:c.2711G>A	ENSP00000494916.2:p.Ser904Asn
ENST00000643875.1:c.3074G>A	ENSP00000495158.1:p.Ser1025Asn
ENST00000644097.1:c.3071G>A	ENSP00000494682.1:p.Ser1024Asn
ENST00000644184.1:c.1769G>A	ENSP00000495428.1:p.Ser590Asn
ENST00000644184.2:c.3032G>A	ENSP00000495428.2:p.Ser1011Asn
ENST00000644255.1:c.*2841G>A	ENSP00000493608.1:n.*2841G>A
ENST00000644319.1:n.3449G>A
ENST00000644786.1:n.733G>A
ENST00000644882.1:n.1982G>A
ENST00000645129.2:c.2918G>A	ENSP00000493639.2:p.Ser973Asn
ENST00000645901.1:n.3925G>A
ENST00000646391.1:c.*2844G>A	ENSP00000494104.1:n.*2844G>A
ENST00000646440.2:c.3074G>A	ENSP00000495830.2:p.Ser1025Asn
ENST00000646625.1:c.3074G>A	ENSP00000496263.1:p.Ser1025Asn
ENST00000647262.1:n.2039G>A
ENST00000647279.1:c.*2313G>A	ENSP00000494502.1:n.*2313G>A
ENST00000647534.1:n.2138G>A
XM_005272211.1:c.3074G>A	XP_005272268.1:p.Ser1025Asn
XM_006717271.1:c.3074G>A	XP_006717334.1:p.Ser1025Asn
XM_011518979.1:c.3074G>A	XP_011517281.1:p.Ser1025Asn
XM_011518979.2:c.3074G>A	XP_011517281.1:p.Ser1025Asn
XM_017015096.1:c.3074G>A	XP_016870585.1:p.Ser1025Asn
XM_017015097.1:c.3074G>A	XP_016870586.1:p.Ser1025Asn
XM_017015098.1:c.3071G>A	XP_016870587.1:p.Ser1024Asn
XM_017015100.1:c.2711G>A	XP_016870589.1:p.Ser904Asn
XM_017015101.1:c.2708G>A	XP_016870590.1:p.Ser903Asn