Canonical Allele Identifier: CA5082172

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72830513A>G , CM000671.2:g.72830513A>G	GRCh38
NC_000009.11:g.75445429A>G , CM000671.1:g.75445429A>G	GRCh37
NC_000009.10:g.74635249A>G	NCBI36
NG_008213.1:g.313713A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.2192A>G MANE Select	NP_619636.2:p.Lys731Arg
ENST00000297784.10:c.2192A>G MANE Select	ENSP00000297784.6:p.Lys731Arg
NM_138691.2:c.2192A>G	NP_619636.2:p.Lys731Arg
ENST00000297784.9:c.2192A>G	ENSP00000297784.5:p.Lys731Arg
ENST00000340019.4:c.2192A>G	ENSP00000341433.3:p.Lys731Arg
ENST00000469455.1:n.673A>G
ENST00000486417.5:n.1090A>G
ENST00000644967.1:c.*632A>G	ENSP00000496159.1:n.*632A>G
ENST00000645053.1:c.*177A>G	ENSP00000493838.1:n.*177A>G
ENST00000645208.2:c.2192A>G	ENSP00000494684.1:p.Lys731Arg
ENST00000645787.1:n.2335A>G
ENST00000646619.1:c.1754A>G	ENSP00000493726.1:p.Lys585Arg
ENST00000651183.1:c.1754A>G	ENSP00000498723.1:p.Lys585Arg
XM_011518213.1:c.2780A>G	XP_011516515.1:p.Lys927Arg
XM_017014256.1:c.2195A>G	XP_016869745.1:p.Lys732Arg