Canonical Allele Identifier: CA375369892

Gene: TSC1

Linked Data

• ClinVar Variation Id: 855360
• ClinVar RCV Id: RCV001060615 ; RCV001772280
• dbSNP Id: rs1845327520
• gnomAD v4: 9-132900733-C-G
• MyVariant Identifiers: chr9:g.135776120C>G (hg19) ; chr9:g.132900733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900733C>G , CM000671.2:g.132900733C>G	GRCh38
NC_000009.11:g.135776120C>G , CM000671.1:g.135776120C>G	GRCh37
NC_000009.10:g.134765941C>G	NCBI36
NG_012386.1:g.48901G>C , LRG_486:g.48901G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2604G>C	ENSP00000496126.2:p.Lys868Asn
ENST00000490179.4:c.2607G>C	ENSP00000495533.2:p.Lys869Asn
ENST00000642261.2:c.*386G>C	ENSP00000494743.2:n.*386G>C
ENST00000643275.2:c.*547G>C	ENSP00000495598.2:n.*547G>C
ENST00000643362.2:c.2220G>C	ENSP00000496398.2:p.Lys740Asn
ENST00000643625.2:c.*349G>C	ENSP00000495546.2:n.*349G>C
ENST00000643691.2:c.2244G>C	ENSP00000494916.2:p.Lys748Asn
ENST00000644184.2:c.2565G>C	ENSP00000495428.2:p.Lys855Asn
ENST00000645129.2:c.2451G>C	ENSP00000493639.2:p.Lys817Asn
ENST00000646440.2:c.2607G>C	ENSP00000495830.2:p.Lys869Asn
ENST00000298552.9:c.2607G>C MANE Select	ENSP00000298552.3:p.Lys869Asn
ENST00000642261.1:c.667G>C
ENST00000642617.1:c.2604G>C	ENSP00000493773.1:p.Lys868Asn
ENST00000642627.1:c.2589G>C	ENSP00000496772.1:p.Lys863Asn
ENST00000642811.1:c.*2377G>C	ENSP00000495554.1:n.*2377G>C
ENST00000643072.1:c.2454G>C	ENSP00000496691.1:p.Lys818Asn
ENST00000643275.1:c.1081G>C	ENSP00000495598.1:n.1081G>C
ENST00000643583.1:c.2592G>C	ENSP00000494685.1:p.Lys864Asn
ENST00000643625.1:c.484G>C	ENSP00000495546.1:n.484G>C
ENST00000643875.1:c.2607G>C	ENSP00000495158.1:p.Lys869Asn
ENST00000644097.1:c.2604G>C	ENSP00000494682.1:p.Lys868Asn
ENST00000644184.1:c.1302G>C	ENSP00000495428.1:p.Lys434Asn
ENST00000644255.1:c.*2374G>C	ENSP00000493608.1:n.*2374G>C
ENST00000644319.1:n.2982G>C
ENST00000644786.1:n.266G>C
ENST00000644882.1:n.1520G>C
ENST00000645901.1:n.3458G>C
ENST00000646391.1:c.*2377G>C	ENSP00000494104.1:n.*2377G>C
ENST00000646625.1:c.2607G>C	ENSP00000496263.1:p.Lys869Asn
ENST00000647262.1:n.1572G>C
ENST00000647279.1:c.*1846G>C	ENSP00000494502.1:n.*1846G>C
ENST00000647506.1:n.3483G>C
ENST00000647534.1:n.1671G>C
ENST00000298552.7:c.2607G>C	ENSP00000298552.3:p.Lys869Asn
ENST00000440111.6:c.2607G>C	ENSP00000394524.2:p.Lys869Asn
ENST00000545250.5:c.2454G>C	ENSP00000444017.1:p.Lys818Asn
NM_000368.4:c.2607G>C , LRG_486t1:c.2607G>C	NP_000359.1:p.Lys869Asn
NM_001162426.1:c.2604G>C	NP_001155898.1:p.Lys868Asn
NM_001162427.1:c.2454G>C	NP_001155899.1:p.Lys818Asn
XM_005272211.1:c.2607G>C	XP_005272268.1:p.Lys869Asn
XM_006717271.1:c.2607G>C	XP_006717334.1:p.Lys869Asn
XM_011518979.1:c.2607G>C	XP_011517281.1:p.Lys869Asn
NM_001362177.1:c.2244G>C	NP_001349106.1:p.Lys748Asn
XM_011518979.2:c.2607G>C	XP_011517281.1:p.Lys869Asn
XM_017015096.1:c.2607G>C	XP_016870585.1:p.Lys869Asn
XM_017015097.1:c.2607G>C	XP_016870586.1:p.Lys869Asn
XM_017015098.1:c.2604G>C	XP_016870587.1:p.Lys868Asn
XM_017015100.1:c.2244G>C	XP_016870589.1:p.Lys748Asn
XM_017015101.1:c.2241G>C	XP_016870590.1:p.Lys747Asn
NM_000368.5:c.2607G>C MANE Select	NP_000359.1:p.Lys869Asn
NM_001162426.2:c.2604G>C	NP_001155898.1:p.Lys868Asn
NM_001162427.2:c.2454G>C	NP_001155899.1:p.Lys818Asn
NM_001362177.2:c.2244G>C	NP_001349106.1:p.Lys748Asn