Canonical Allele Identifier: CA375366445

Gene: TSC1

Linked Data

• dbSNP Id: rs769266225
• MyVariant Identifiers: chr9:g.135771715G>C (hg19) ; chr9:g.132896328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896328G>C , CM000671.2:g.132896328G>C	GRCh38
NC_000009.11:g.135771715G>C , CM000671.1:g.135771715G>C	GRCh37
NC_000009.10:g.134761536G>C	NCBI36
NG_012386.1:g.53306C>G , LRG_486:g.53306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3399C>G	ENSP00000496126.2:p.Asn1133Lys
ENST00000490179.4:c.3402C>G	ENSP00000495533.2:p.Asn1134Lys
ENST00000642261.2:c.*1258C>G	ENSP00000494743.2:n.*1258C>G
ENST00000643275.2:c.*1342C>G	ENSP00000495598.2:n.*1342C>G
ENST00000643362.2:c.3015C>G	ENSP00000496398.2:p.Asn1005Lys
ENST00000643625.2:c.*1144C>G	ENSP00000495546.2:n.*1144C>G
ENST00000643691.2:c.3039C>G	ENSP00000494916.2:p.Asn1013Lys
ENST00000644184.2:c.3360C>G	ENSP00000495428.2:p.Asn1120Lys
ENST00000645129.2:c.3246C>G	ENSP00000493639.2:p.Asn1082Lys
ENST00000646440.2:c.3402C>G	ENSP00000495830.2:p.Asn1134Lys
ENST00000298552.9:c.3402C>G MANE Select	ENSP00000298552.3:p.Asn1134Lys
ENST00000642617.1:c.3399C>G	ENSP00000493773.1:p.Asn1133Lys
ENST00000642627.1:c.3384C>G	ENSP00000496772.1:p.Asn1128Lys
ENST00000642811.1:c.*3172C>G	ENSP00000495554.1:n.*3172C>G
ENST00000643072.1:c.3249C>G	ENSP00000496691.1:p.Asn1083Lys
ENST00000643583.1:c.3387C>G	ENSP00000494685.1:p.Asn1129Lys
ENST00000643625.1:c.1279C>G	ENSP00000495546.1:n.1279C>G
ENST00000643875.1:c.3402C>G	ENSP00000495158.1:p.Asn1134Lys
ENST00000644097.1:c.3399C>G	ENSP00000494682.1:p.Asn1133Lys
ENST00000644184.1:c.2097C>G	ENSP00000495428.1:p.Asn699Lys
ENST00000644255.1:c.*3169C>G	ENSP00000493608.1:n.*3169C>G
ENST00000644319.1:n.3777C>G
ENST00000644786.1:n.1061C>G
ENST00000644882.1:n.2310C>G
ENST00000645901.1:n.4253C>G
ENST00000646391.1:c.*3172C>G	ENSP00000494104.1:n.*3172C>G
ENST00000646625.1:c.3402C>G	ENSP00000496263.1:p.Asn1134Lys
ENST00000647262.1:n.2367C>G
ENST00000647279.1:c.*2641C>G	ENSP00000494502.1:n.*2641C>G
ENST00000647534.1:n.2466C>G
ENST00000298552.7:c.3402C>G	ENSP00000298552.3:p.Asn1134Lys
ENST00000440111.6:c.3402C>G	ENSP00000394524.2:p.Asn1134Lys
ENST00000545250.5:c.3249C>G	ENSP00000444017.1:p.Asn1083Lys
NM_000368.4:c.3402C>G , LRG_486t1:c.3402C>G	NP_000359.1:p.Asn1134Lys
NM_001162426.1:c.3399C>G	NP_001155898.1:p.Asn1133Lys
NM_001162427.1:c.3249C>G	NP_001155899.1:p.Asn1083Lys
XM_005272211.1:c.3402C>G	XP_005272268.1:p.Asn1134Lys
XM_006717271.1:c.3402C>G	XP_006717334.1:p.Asn1134Lys
XM_011518979.1:c.3402C>G	XP_011517281.1:p.Asn1134Lys
NM_001362177.1:c.3039C>G	NP_001349106.1:p.Asn1013Lys
XM_011518979.2:c.3402C>G	XP_011517281.1:p.Asn1134Lys
XM_017015096.1:c.3402C>G	XP_016870585.1:p.Asn1134Lys
XM_017015097.1:c.3402C>G	XP_016870586.1:p.Asn1134Lys
XM_017015098.1:c.3399C>G	XP_016870587.1:p.Asn1133Lys
XM_017015100.1:c.3039C>G	XP_016870589.1:p.Asn1013Lys
XM_017015101.1:c.3036C>G	XP_016870590.1:p.Asn1012Lys
NM_000368.5:c.3402C>G MANE Select	NP_000359.1:p.Asn1134Lys
NM_001162426.2:c.3399C>G	NP_001155898.1:p.Asn1133Lys
NM_001162427.2:c.3249C>G	NP_001155899.1:p.Asn1083Lys
NM_001362177.2:c.3039C>G	NP_001349106.1:p.Asn1013Lys