Canonical Allele Identifier: CA373668481

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75431122A>G (hg19) ; chr9:g.72816206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816206A>G , CM000671.2:g.72816206A>G	GRCh38
NC_000009.11:g.75431122A>G , CM000671.1:g.75431122A>G	GRCh37
NC_000009.10:g.74620942A>G	NCBI36
NG_008213.1:g.299406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1759A>G MANE Select	ENSP00000297784.6:p.Ile587Val
ENST00000644967.1:c.1321A>G	ENSP00000496159.1:p.Ile441Val
ENST00000645053.1:c.1258-10663A>G	ENSP00000493838.1:n.1258-10663A>G
ENST00000645208.2:c.1759A>G	ENSP00000494684.1:p.Ile587Val
ENST00000645773.1:c.1633A>G	ENSP00000493698.1:p.Ile545Val
ENST00000645787.1:n.1902A>G
ENST00000646619.1:c.1321A>G	ENSP00000493726.1:p.Ile441Val
ENST00000651183.1:c.1321A>G	ENSP00000498723.1:p.Ile441Val
ENST00000297784.9:c.1759A>G	ENSP00000297784.5:p.Ile587Val
ENST00000340019.4:c.1759A>G	ENSP00000341433.3:p.Ile587Val
ENST00000469455.1:n.240A>G
ENST00000486417.5:n.383A>G
NM_138691.2:c.1759A>G	NP_619636.2:p.Ile587Val
XM_011518213.1:c.2347A>G	XP_011516515.1:p.Ile783Val
XM_017014256.1:c.1762A>G	XP_016869745.1:p.Ile588Val
NM_138691.3:c.1759A>G MANE Select	NP_619636.2:p.Ile587Val