Canonical Allele Identifier: CA373667771

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1310995
• ClinVar RCV Id: RCV001758504
• dbSNP Id: rs2118239557
• MyVariant Identifiers: chr9:g.75420419A>G (hg19) ; chr9:g.72805503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805503A>G , CM000671.2:g.72805503A>G	GRCh38
NC_000009.11:g.75420419A>G , CM000671.1:g.75420419A>G	GRCh37
NC_000009.10:g.74610239A>G	NCBI36
NG_008213.1:g.288703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1688A>G MANE Select	ENSP00000297784.6:p.Tyr563Cys
ENST00000644967.1:c.1250A>G	ENSP00000496159.1:p.Tyr417Cys
ENST00000645053.1:c.1250A>G	ENSP00000493838.1:p.Tyr417Cys
ENST00000645208.2:c.1688A>G	ENSP00000494684.1:p.Tyr563Cys
ENST00000645773.1:c.1562A>G	ENSP00000493698.1:p.Tyr521Cys
ENST00000645787.1:n.1831A>G
ENST00000646619.1:c.1250A>G	ENSP00000493726.1:p.Tyr417Cys
ENST00000651183.1:c.1250A>G	ENSP00000498723.1:p.Tyr417Cys
ENST00000297784.9:c.1688A>G	ENSP00000297784.5:p.Tyr563Cys
ENST00000340019.4:c.1688A>G	ENSP00000341433.3:p.Tyr563Cys
ENST00000486417.5:n.312A>G
NM_138691.2:c.1688A>G	NP_619636.2:p.Tyr563Cys
XM_011518213.1:c.2276A>G	XP_011516515.1:p.Tyr759Cys
XM_017014256.1:c.1691A>G	XP_016869745.1:p.Tyr564Cys
NM_138691.3:c.1688A>G MANE Select	NP_619636.2:p.Tyr563Cys