Canonical Allele Identifier: CA373505007

Gene: TMC1

Linked Data

• dbSNP Id: rs1401880558
• gnomAD v2: 9-75404180-C-G
• gnomAD v3: 9-72789264-C-G
• gnomAD v4: 9-72789264-C-G
• MyVariant Identifiers: chr9:g.75404180C>G (hg19) ; chr9:g.72789264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789264C>G , CM000671.2:g.72789264C>G	GRCh38
NC_000009.11:g.75404180C>G , CM000671.1:g.75404180C>G	GRCh37
NC_000009.10:g.74594000C>G	NCBI36
NG_008213.1:g.272464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1171C>G MANE Select	ENSP00000297784.6:p.Gln391Glu
ENST00000644967.1:c.733C>G	ENSP00000496159.1:p.Gln245Glu
ENST00000645053.1:c.733C>G	ENSP00000493838.1:p.Gln245Glu
ENST00000645208.2:c.1171C>G	ENSP00000494684.1:p.Gln391Glu
ENST00000645773.1:c.1045C>G	ENSP00000493698.1:p.Gln349Glu
ENST00000645787.1:n.1211C>G
ENST00000646619.1:c.733C>G	ENSP00000493726.1:p.Gln245Glu
ENST00000650689.1:n.1469C>G
ENST00000651183.1:c.733C>G	ENSP00000498723.1:p.Gln245Glu
ENST00000297784.9:c.1171C>G	ENSP00000297784.5:p.Gln391Glu
ENST00000340019.4:c.1171C>G	ENSP00000341433.3:p.Gln391Glu
NM_138691.2:c.1171C>G	NP_619636.2:p.Gln391Glu
XM_011518213.1:c.1759C>G	XP_011516515.1:p.Gln587Glu
XM_017014256.1:c.1174C>G	XP_016869745.1:p.Gln392Glu
NM_138691.3:c.1171C>G MANE Select	NP_619636.2:p.Gln391Glu