Canonical Allele Identifier: CA465492724

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435920C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821004C>A , CM000671.2:g.72821004C>A	GRCh38
NC_000009.11:g.75435920C>A , CM000671.1:g.75435920C>A	GRCh37
NC_000009.10:g.74625740C>A	NCBI36
NG_008213.1:g.304204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1926C>A MANE Select	ENSP00000297784.6:p.Leu642=
ENST00000644967.1:c.*366C>A	ENSP00000496159.1:n.*366C>A
ENST00000645053.1:c.1258-5865C>A	ENSP00000493838.1:n.1258-5865C>A
ENST00000645208.2:c.1926C>A	ENSP00000494684.1:p.Leu642=
ENST00000645773.1:c.1800C>A	ENSP00000493698.1:p.Leu600=
ENST00000645787.1:n.2069C>A
ENST00000646619.1:c.1488C>A	ENSP00000493726.1:p.Leu496=
ENST00000651183.1:c.1488C>A	ENSP00000498723.1:p.Leu496=
ENST00000297784.9:c.1926C>A	ENSP00000297784.5:p.Leu642=
ENST00000340019.4:c.1926C>A	ENSP00000341433.3:p.Leu642=
ENST00000469455.1:n.407C>A
ENST00000486417.5:n.824C>A
NM_138691.2:c.1926C>A	NP_619636.2:p.Leu642=
XM_011518213.1:c.2514C>A	XP_011516515.1:p.Leu838=
XM_017014256.1:c.1929C>A	XP_016869745.1:p.Leu643=
NM_138691.3:c.1926C>A MANE Select	NP_619636.2:p.Leu642=