Canonical Allele Identifier: CA375360999

Gene: TSC1

Linked Data

• dbSNP Id: rs1328198866
• gnomAD v2: 9-135779122-C-G
• gnomAD v4: 9-132903735-C-G
• MyVariant Identifiers: chr9:g.135779122C>G (hg19) ; chr9:g.132903735C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903735C>G , CM000671.2:g.132903735C>G	GRCh38
NC_000009.11:g.135779122C>G , CM000671.1:g.135779122C>G	GRCh37
NC_000009.10:g.134768943C>G	NCBI36
NG_012386.1:g.45899G>C , LRG_486:g.45899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2121G>C	ENSP00000496126.2:p.Lys707Asn
ENST00000490179.4:c.2124G>C	ENSP00000495533.2:p.Lys708Asn
ENST00000642261.2:c.2124G>C	ENSP00000494743.2:p.Lys708Asn
ENST00000643275.2:c.*64G>C	ENSP00000495598.2:n.*64G>C
ENST00000643362.2:c.1737G>C	ENSP00000496398.2:p.Lys579Asn
ENST00000643625.2:c.2041+676G>C	ENSP00000495546.2:n.2041+676G>C
ENST00000643691.2:c.1761G>C	ENSP00000494916.2:p.Lys587Asn
ENST00000644184.2:c.2124G>C	ENSP00000495428.2:p.Lys708Asn
ENST00000645129.2:c.1968G>C	ENSP00000493639.2:p.Lys656Asn
ENST00000646440.2:c.2124G>C	ENSP00000495830.2:p.Lys708Asn
ENST00000298552.9:c.2124G>C MANE Select	ENSP00000298552.3:p.Lys708Asn
ENST00000642261.1:c.188G>C
ENST00000642617.1:c.2121G>C	ENSP00000493773.1:p.Lys707Asn
ENST00000642627.1:c.2106G>C	ENSP00000496772.1:p.Lys702Asn
ENST00000642811.1:c.*1894G>C	ENSP00000495554.1:n.*1894G>C
ENST00000643072.1:c.1971G>C	ENSP00000496691.1:p.Lys657Asn
ENST00000643275.1:c.598G>C	ENSP00000495598.1:n.598G>C
ENST00000643583.1:c.2109G>C	ENSP00000494685.1:p.Lys703Asn
ENST00000643625.1:c.85+676G>C	ENSP00000495546.1:n.85+676G>C
ENST00000643875.1:c.2124G>C	ENSP00000495158.1:p.Lys708Asn
ENST00000644097.1:c.2121G>C	ENSP00000494682.1:p.Lys707Asn
ENST00000644184.1:c.861G>C	ENSP00000495428.1:p.Lys287Asn
ENST00000644255.1:c.*1891G>C	ENSP00000493608.1:n.*1891G>C
ENST00000644319.1:n.2499G>C
ENST00000644882.1:n.1079G>C
ENST00000645901.1:n.2975G>C
ENST00000646391.1:c.*1894G>C	ENSP00000494104.1:n.*1894G>C
ENST00000646625.1:c.2124G>C	ENSP00000496263.1:p.Lys708Asn
ENST00000647262.1:n.1089G>C
ENST00000647279.1:c.*1363G>C	ENSP00000494502.1:n.*1363G>C
ENST00000647506.1:n.3000G>C
ENST00000647534.1:n.1188G>C
ENST00000298552.7:c.2124G>C	ENSP00000298552.3:p.Lys708Asn
ENST00000440111.6:c.2124G>C	ENSP00000394524.2:p.Lys708Asn
ENST00000545250.5:c.1971G>C	ENSP00000444017.1:p.Lys657Asn
NM_000368.4:c.2124G>C , LRG_486t1:c.2124G>C	NP_000359.1:p.Lys708Asn
NM_001162426.1:c.2121G>C	NP_001155898.1:p.Lys707Asn
NM_001162427.1:c.1971G>C	NP_001155899.1:p.Lys657Asn
XM_005272211.1:c.2124G>C	XP_005272268.1:p.Lys708Asn
XM_006717271.1:c.2124G>C	XP_006717334.1:p.Lys708Asn
XM_011518979.1:c.2124G>C	XP_011517281.1:p.Lys708Asn
NM_001362177.1:c.1761G>C	NP_001349106.1:p.Lys587Asn
XM_011518979.2:c.2124G>C	XP_011517281.1:p.Lys708Asn
XM_017015096.1:c.2124G>C	XP_016870585.1:p.Lys708Asn
XM_017015097.1:c.2124G>C	XP_016870586.1:p.Lys708Asn
XM_017015098.1:c.2121G>C	XP_016870587.1:p.Lys707Asn
XM_017015100.1:c.1761G>C	XP_016870589.1:p.Lys587Asn
XM_017015101.1:c.1758G>C	XP_016870590.1:p.Lys586Asn
NM_000368.5:c.2124G>C MANE Select	NP_000359.1:p.Lys708Asn
NM_001162426.2:c.2121G>C	NP_001155898.1:p.Lys707Asn
NM_001162427.2:c.1971G>C	NP_001155899.1:p.Lys657Asn
NM_001362177.2:c.1761G>C	NP_001349106.1:p.Lys587Asn