Canonical Allele Identifier: CA465185661

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75420366A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805450A>T , CM000671.2:g.72805450A>T	GRCh38
NC_000009.11:g.75420366A>T , CM000671.1:g.75420366A>T	GRCh37
NC_000009.10:g.74610186A>T	NCBI36
NG_008213.1:g.288650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1635A>T MANE Select	ENSP00000297784.6:p.Leu545=
ENST00000644967.1:c.1197A>T	ENSP00000496159.1:p.Leu399=
ENST00000645053.1:c.1197A>T	ENSP00000493838.1:p.Leu399=
ENST00000645208.2:c.1635A>T	ENSP00000494684.1:p.Leu545=
ENST00000645773.1:c.1509A>T	ENSP00000493698.1:p.Leu503=
ENST00000645787.1:n.1778A>T
ENST00000646619.1:c.1197A>T	ENSP00000493726.1:p.Leu399=
ENST00000651183.1:c.1197A>T	ENSP00000498723.1:p.Leu399=
ENST00000297784.9:c.1635A>T	ENSP00000297784.5:p.Leu545=
ENST00000340019.4:c.1635A>T	ENSP00000341433.3:p.Leu545=
ENST00000486417.5:n.259A>T
NM_138691.2:c.1635A>T	NP_619636.2:p.Leu545=
XM_011518213.1:c.2223A>T	XP_011516515.1:p.Leu741=
XM_017014256.1:c.1638A>T	XP_016869745.1:p.Leu546=
NM_138691.3:c.1635A>T MANE Select	NP_619636.2:p.Leu545=