Canonical Allele Identifier: CA373504996

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404174C>G (hg19) ; chr9:g.72789258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789258C>G , CM000671.2:g.72789258C>G	GRCh38
NC_000009.11:g.75404174C>G , CM000671.1:g.75404174C>G	GRCh37
NC_000009.10:g.74593994C>G	NCBI36
NG_008213.1:g.272458C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1165C>G MANE Select	ENSP00000297784.6:p.Arg389Gly
ENST00000644967.1:c.727C>G	ENSP00000496159.1:p.Arg243Gly
ENST00000645053.1:c.727C>G	ENSP00000493838.1:p.Arg243Gly
ENST00000645208.2:c.1165C>G	ENSP00000494684.1:p.Arg389Gly
ENST00000645773.1:c.1039C>G	ENSP00000493698.1:p.Arg347Gly
ENST00000645787.1:n.1205C>G
ENST00000646619.1:c.727C>G	ENSP00000493726.1:p.Arg243Gly
ENST00000650689.1:n.1463C>G
ENST00000651183.1:c.727C>G	ENSP00000498723.1:p.Arg243Gly
ENST00000297784.9:c.1165C>G	ENSP00000297784.5:p.Arg389Gly
ENST00000340019.4:c.1165C>G	ENSP00000341433.3:p.Arg389Gly
NM_138691.2:c.1165C>G	NP_619636.2:p.Arg389Gly
XM_011518213.1:c.1753C>G	XP_011516515.1:p.Arg585Gly
XM_017014256.1:c.1168C>G	XP_016869745.1:p.Arg390Gly
NM_138691.3:c.1165C>G MANE Select	NP_619636.2:p.Arg389Gly