Canonical Allele Identifier: CA465185840

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75420414G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805498G>A , CM000671.2:g.72805498G>A	GRCh38
NC_000009.11:g.75420414G>A , CM000671.1:g.75420414G>A	GRCh37
NC_000009.10:g.74610234G>A	NCBI36
NG_008213.1:g.288698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1683G>A MANE Select	ENSP00000297784.6:p.Leu561=
ENST00000644967.1:c.1245G>A	ENSP00000496159.1:p.Leu415=
ENST00000645053.1:c.1245G>A	ENSP00000493838.1:p.Leu415=
ENST00000645208.2:c.1683G>A	ENSP00000494684.1:p.Leu561=
ENST00000645773.1:c.1557G>A	ENSP00000493698.1:p.Leu519=
ENST00000645787.1:n.1826G>A
ENST00000646619.1:c.1245G>A	ENSP00000493726.1:p.Leu415=
ENST00000651183.1:c.1245G>A	ENSP00000498723.1:p.Leu415=
ENST00000297784.9:c.1683G>A	ENSP00000297784.5:p.Leu561=
ENST00000340019.4:c.1683G>A	ENSP00000341433.3:p.Leu561=
ENST00000486417.5:n.307G>A
NM_138691.2:c.1683G>A	NP_619636.2:p.Leu561=
XM_011518213.1:c.2271G>A	XP_011516515.1:p.Leu757=
XM_017014256.1:c.1686G>A	XP_016869745.1:p.Leu562=
NM_138691.3:c.1683G>A MANE Select	NP_619636.2:p.Leu561=