Canonical Allele Identifier: CA16612438

Gene: TSC1

Linked Data

• ClinVar Variation Id: 411284
• ClinVar RCV Id: RCV000474187 ; RCV001020266
• dbSNP Id: rs1060503227
• gnomAD v4: 9-132896306-G-C
• MyVariant Identifiers: chr9:g.135771693G>C (hg19) ; chr9:g.132896306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896306G>C , CM000671.2:g.132896306G>C	GRCh38
NC_000009.11:g.135771693G>C , CM000671.1:g.135771693G>C	GRCh37
NC_000009.10:g.134761514G>C	NCBI36
NG_012386.1:g.53328C>G , LRG_486:g.53328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3421C>G	ENSP00000496126.2:p.Pro1141Ala
ENST00000490179.4:c.3424C>G	ENSP00000495533.2:p.Pro1142Ala
ENST00000642261.2:c.*1280C>G	ENSP00000494743.2:n.*1280C>G
ENST00000643275.2:c.*1364C>G	ENSP00000495598.2:n.*1364C>G
ENST00000643362.2:c.3037C>G	ENSP00000496398.2:p.Pro1013Ala
ENST00000643625.2:c.*1166C>G	ENSP00000495546.2:n.*1166C>G
ENST00000643691.2:c.3061C>G	ENSP00000494916.2:p.Pro1021Ala
ENST00000644184.2:c.3382C>G	ENSP00000495428.2:p.Pro1128Ala
ENST00000645129.2:c.3268C>G	ENSP00000493639.2:p.Pro1090Ala
ENST00000646440.2:c.3424C>G	ENSP00000495830.2:p.Pro1142Ala
ENST00000298552.9:c.3424C>G MANE Select	ENSP00000298552.3:p.Pro1142Ala
ENST00000642617.1:c.3421C>G	ENSP00000493773.1:p.Pro1141Ala
ENST00000642627.1:c.3406C>G	ENSP00000496772.1:p.Pro1136Ala
ENST00000642811.1:c.*3194C>G	ENSP00000495554.1:n.*3194C>G
ENST00000643072.1:c.3271C>G	ENSP00000496691.1:p.Pro1091Ala
ENST00000643583.1:c.3409C>G	ENSP00000494685.1:p.Pro1137Ala
ENST00000643625.1:c.1301C>G	ENSP00000495546.1:n.1301C>G
ENST00000643875.1:c.3424C>G	ENSP00000495158.1:p.Pro1142Ala
ENST00000644097.1:c.3421C>G	ENSP00000494682.1:p.Pro1141Ala
ENST00000644184.1:c.2119C>G	ENSP00000495428.1:p.Pro707Ala
ENST00000644255.1:c.*3191C>G	ENSP00000493608.1:n.*3191C>G
ENST00000644319.1:n.3799C>G
ENST00000644786.1:n.1083C>G
ENST00000644882.1:n.2332C>G
ENST00000645901.1:n.4275C>G
ENST00000646391.1:c.*3194C>G	ENSP00000494104.1:n.*3194C>G
ENST00000646625.1:c.3424C>G	ENSP00000496263.1:p.Pro1142Ala
ENST00000647262.1:n.2389C>G
ENST00000647279.1:c.*2663C>G	ENSP00000494502.1:n.*2663C>G
ENST00000647534.1:n.2488C>G
ENST00000298552.7:c.3424C>G	ENSP00000298552.3:p.Pro1142Ala
ENST00000440111.6:c.3424C>G	ENSP00000394524.2:p.Pro1142Ala
ENST00000545250.5:c.3271C>G	ENSP00000444017.1:p.Pro1091Ala
NM_000368.4:c.3424C>G , LRG_486t1:c.3424C>G	NP_000359.1:p.Pro1142Ala
NM_001162426.1:c.3421C>G	NP_001155898.1:p.Pro1141Ala
NM_001162427.1:c.3271C>G	NP_001155899.1:p.Pro1091Ala
XM_005272211.1:c.3424C>G	XP_005272268.1:p.Pro1142Ala
XM_006717271.1:c.3424C>G	XP_006717334.1:p.Pro1142Ala
XM_011518979.1:c.3424C>G	XP_011517281.1:p.Pro1142Ala
NM_001362177.1:c.3061C>G	NP_001349106.1:p.Pro1021Ala
XM_011518979.2:c.3424C>G	XP_011517281.1:p.Pro1142Ala
XM_017015096.1:c.3424C>G	XP_016870585.1:p.Pro1142Ala
XM_017015097.1:c.3424C>G	XP_016870586.1:p.Pro1142Ala
XM_017015098.1:c.3421C>G	XP_016870587.1:p.Pro1141Ala
XM_017015100.1:c.3061C>G	XP_016870589.1:p.Pro1021Ala
XM_017015101.1:c.3058C>G	XP_016870590.1:p.Pro1020Ala
NM_000368.5:c.3424C>G MANE Select	NP_000359.1:p.Pro1142Ala
NM_001162426.2:c.3421C>G	NP_001155898.1:p.Pro1141Ala
NM_001162427.2:c.3271C>G	NP_001155899.1:p.Pro1091Ala
NM_001362177.2:c.3061C>G	NP_001349106.1:p.Pro1021Ala