Canonical Allele Identifier: CA465492721

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435917G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821001G>T , CM000671.2:g.72821001G>T	GRCh38
NC_000009.11:g.75435917G>T , CM000671.1:g.75435917G>T	GRCh37
NC_000009.10:g.74625737G>T	NCBI36
NG_008213.1:g.304201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1923G>T MANE Select	ENSP00000297784.6:p.Leu641=
ENST00000644967.1:c.*363G>T	ENSP00000496159.1:n.*363G>T
ENST00000645053.1:c.1258-5868G>T	ENSP00000493838.1:n.1258-5868G>T
ENST00000645208.2:c.1923G>T	ENSP00000494684.1:p.Leu641=
ENST00000645773.1:c.1797G>T	ENSP00000493698.1:p.Leu599=
ENST00000645787.1:n.2066G>T
ENST00000646619.1:c.1485G>T	ENSP00000493726.1:p.Leu495=
ENST00000651183.1:c.1485G>T	ENSP00000498723.1:p.Leu495=
ENST00000297784.9:c.1923G>T	ENSP00000297784.5:p.Leu641=
ENST00000340019.4:c.1923G>T	ENSP00000341433.3:p.Leu641=
ENST00000469455.1:n.404G>T
ENST00000486417.5:n.821G>T
NM_138691.2:c.1923G>T	NP_619636.2:p.Leu641=
XM_011518213.1:c.2511G>T	XP_011516515.1:p.Leu837=
XM_017014256.1:c.1926G>T	XP_016869745.1:p.Leu642=
NM_138691.3:c.1923G>T MANE Select	NP_619636.2:p.Leu641=