Canonical Allele Identifier: CA373669749

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435859C>G (hg19) ; chr9:g.72820943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820943C>G , CM000671.2:g.72820943C>G	GRCh38
NC_000009.11:g.75435859C>G , CM000671.1:g.75435859C>G	GRCh37
NC_000009.10:g.74625679C>G	NCBI36
NG_008213.1:g.304143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1865C>G MANE Select	ENSP00000297784.6:p.Pro622Arg
ENST00000644967.1:c.*305C>G	ENSP00000496159.1:n.*305C>G
ENST00000645053.1:c.1258-5926C>G	ENSP00000493838.1:n.1258-5926C>G
ENST00000645208.2:c.1865C>G	ENSP00000494684.1:p.Pro622Arg
ENST00000645773.1:c.1739C>G	ENSP00000493698.1:p.Pro580Arg
ENST00000645787.1:n.2008C>G
ENST00000646619.1:c.1427C>G	ENSP00000493726.1:p.Pro476Arg
ENST00000651183.1:c.1427C>G	ENSP00000498723.1:p.Pro476Arg
ENST00000297784.9:c.1865C>G	ENSP00000297784.5:p.Pro622Arg
ENST00000340019.4:c.1865C>G	ENSP00000341433.3:p.Pro622Arg
ENST00000469455.1:n.346C>G
ENST00000486417.5:n.763C>G
NM_138691.2:c.1865C>G	NP_619636.2:p.Pro622Arg
XM_011518213.1:c.2453C>G	XP_011516515.1:p.Pro818Arg
XM_017014256.1:c.1868C>G	XP_016869745.1:p.Pro623Arg
NM_138691.3:c.1865C>G MANE Select	NP_619636.2:p.Pro622Arg