Canonical Allele Identifier: CA465189378

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700539-A-G
• COSMIC: COSM5467740
• MyVariant Identifiers: chr9:g.75315455A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700539A>G , CM000671.2:g.72700539A>G	GRCh38
NC_000009.11:g.75315455A>G , CM000671.1:g.75315455A>G	GRCh37
NC_000009.10:g.74505275A>G	NCBI36
NG_008213.1:g.183739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.258A>G MANE Select	ENSP00000297784.6:p.Glu86=
ENST00000644967.1:c.-77+5825A>G	ENSP00000496159.1:n.-77+5825A>G
ENST00000645053.1:c.-77+5825A>G	ENSP00000493838.1:n.-77+5825A>G
ENST00000645208.2:c.258A>G	ENSP00000494684.1:p.Glu86=
ENST00000645773.1:c.236+5825A>G	ENSP00000493698.1:n.236+5825A>G
ENST00000645787.1:n.298A>G
ENST00000646244.1:n.708A>G
ENST00000646619.1:c.-77+5825A>G	ENSP00000493726.1:n.-77+5825A>G
ENST00000650689.1:n.660+5825A>G
ENST00000651183.1:c.-77+5825A>G	ENSP00000498723.1:n.-77+5825A>G
ENST00000297784.9:c.258A>G	ENSP00000297784.5:p.Glu86=
ENST00000340019.4:c.258A>G	ENSP00000341433.3:p.Glu86=
NM_138691.2:c.258A>G	NP_619636.2:p.Glu86=
XM_011518213.1:c.846A>G	XP_011516515.1:p.Glu282=
XM_017014256.1:c.261A>G	XP_016869745.1:p.Glu87=
NM_138691.3:c.258A>G MANE Select	NP_619636.2:p.Glu86=