Canonical Allele Identifier: CA375367938

Gene: TSC1

Linked Data

• ClinVar Variation Id: 466110
• ClinVar RCV Id: RCV000548959 ; RCV002438384 ; RCV003999214
• dbSNP Id: rs1554812991
• gnomAD v4: 9-132896722-G-A
• MyVariant Identifiers: chr9:g.135772109G>A (hg19) ; chr9:g.132896722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896722G>A , CM000671.2:g.132896722G>A	GRCh38
NC_000009.11:g.135772109G>A , CM000671.1:g.135772109G>A	GRCh37
NC_000009.10:g.134761930G>A	NCBI36
NG_012386.1:g.52912C>T , LRG_486:g.52912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3005C>T	ENSP00000496126.2:p.Ser1002Phe
ENST00000490179.4:c.3008C>T	ENSP00000495533.2:p.Ser1003Phe
ENST00000642261.2:c.*864C>T	ENSP00000494743.2:n.*864C>T
ENST00000643275.2:c.*948C>T	ENSP00000495598.2:n.*948C>T
ENST00000643362.2:c.2621C>T	ENSP00000496398.2:p.Ser874Phe
ENST00000643625.2:c.*750C>T	ENSP00000495546.2:n.*750C>T
ENST00000643691.2:c.2645C>T	ENSP00000494916.2:p.Ser882Phe
ENST00000644184.2:c.2966C>T	ENSP00000495428.2:p.Ser989Phe
ENST00000645129.2:c.2852C>T	ENSP00000493639.2:p.Ser951Phe
ENST00000646440.2:c.3008C>T	ENSP00000495830.2:p.Ser1003Phe
ENST00000298552.9:c.3008C>T MANE Select	ENSP00000298552.3:p.Ser1003Phe
ENST00000642261.1:c.1145C>T
ENST00000642617.1:c.3005C>T	ENSP00000493773.1:p.Ser1002Phe
ENST00000642627.1:c.2990C>T	ENSP00000496772.1:p.Ser997Phe
ENST00000642811.1:c.*2778C>T	ENSP00000495554.1:n.*2778C>T
ENST00000643072.1:c.2855C>T	ENSP00000496691.1:p.Ser952Phe
ENST00000643275.1:c.1482C>T	ENSP00000495598.1:n.1482C>T
ENST00000643583.1:c.2993C>T	ENSP00000494685.1:p.Ser998Phe
ENST00000643625.1:c.885C>T	ENSP00000495546.1:n.885C>T
ENST00000643875.1:c.3008C>T	ENSP00000495158.1:p.Ser1003Phe
ENST00000644097.1:c.3005C>T	ENSP00000494682.1:p.Ser1002Phe
ENST00000644184.1:c.1703C>T	ENSP00000495428.1:p.Ser568Phe
ENST00000644255.1:c.*2775C>T	ENSP00000493608.1:n.*2775C>T
ENST00000644319.1:n.3383C>T
ENST00000644786.1:n.667C>T
ENST00000644882.1:n.1916C>T
ENST00000645901.1:n.3859C>T
ENST00000646391.1:c.*2778C>T	ENSP00000494104.1:n.*2778C>T
ENST00000646625.1:c.3008C>T	ENSP00000496263.1:p.Ser1003Phe
ENST00000647262.1:n.1973C>T
ENST00000647279.1:c.*2247C>T	ENSP00000494502.1:n.*2247C>T
ENST00000647534.1:n.2072C>T
ENST00000298552.7:c.3008C>T	ENSP00000298552.3:p.Ser1003Phe
ENST00000440111.6:c.3008C>T	ENSP00000394524.2:p.Ser1003Phe
ENST00000545250.5:c.2855C>T	ENSP00000444017.1:p.Ser952Phe
NM_000368.4:c.3008C>T , LRG_486t1:c.3008C>T	NP_000359.1:p.Ser1003Phe
NM_001162426.1:c.3005C>T	NP_001155898.1:p.Ser1002Phe
NM_001162427.1:c.2855C>T	NP_001155899.1:p.Ser952Phe
XM_005272211.1:c.3008C>T	XP_005272268.1:p.Ser1003Phe
XM_006717271.1:c.3008C>T	XP_006717334.1:p.Ser1003Phe
XM_011518979.1:c.3008C>T	XP_011517281.1:p.Ser1003Phe
NM_001362177.1:c.2645C>T	NP_001349106.1:p.Ser882Phe
XM_011518979.2:c.3008C>T	XP_011517281.1:p.Ser1003Phe
XM_017015096.1:c.3008C>T	XP_016870585.1:p.Ser1003Phe
XM_017015097.1:c.3008C>T	XP_016870586.1:p.Ser1003Phe
XM_017015098.1:c.3005C>T	XP_016870587.1:p.Ser1002Phe
XM_017015100.1:c.2645C>T	XP_016870589.1:p.Ser882Phe
XM_017015101.1:c.2642C>T	XP_016870590.1:p.Ser881Phe
NM_000368.5:c.3008C>T MANE Select	NP_000359.1:p.Ser1003Phe
NM_001162426.2:c.3005C>T	NP_001155898.1:p.Ser1002Phe
NM_001162427.2:c.2855C>T	NP_001155899.1:p.Ser952Phe
NM_001362177.2:c.2645C>T	NP_001349106.1:p.Ser882Phe