Canonical Allele Identifier: CA465186607

Gene: TMC1

Linked Data

• dbSNP Id: rs1171556748
• gnomAD v3: 9-72816163-C-T
• gnomAD v4: 9-72816163-C-T
• MyVariant Identifiers: chr9:g.75431079C>T (hg19) ; chr9:g.72816163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816163C>T , CM000671.2:g.72816163C>T	GRCh38
NC_000009.11:g.75431079C>T , CM000671.1:g.75431079C>T	GRCh37
NC_000009.10:g.74620899C>T	NCBI36
NG_008213.1:g.299363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1716C>T MANE Select	ENSP00000297784.6:p.Asp572=
ENST00000644967.1:c.1278C>T	ENSP00000496159.1:p.Asp426=
ENST00000645053.1:c.1257+10653C>T	ENSP00000493838.1:n.1257+10653C>T
ENST00000645208.2:c.1716C>T	ENSP00000494684.1:p.Asp572=
ENST00000645773.1:c.1590C>T	ENSP00000493698.1:p.Asp530=
ENST00000645787.1:n.1859C>T
ENST00000646619.1:c.1278C>T	ENSP00000493726.1:p.Asp426=
ENST00000651183.1:c.1278C>T	ENSP00000498723.1:p.Asp426=
ENST00000297784.9:c.1716C>T	ENSP00000297784.5:p.Asp572=
ENST00000340019.4:c.1716C>T	ENSP00000341433.3:p.Asp572=
ENST00000469455.1:n.197C>T
ENST00000486417.5:n.340C>T
NM_138691.2:c.1716C>T	NP_619636.2:p.Asp572=
XM_011518213.1:c.2304C>T	XP_011516515.1:p.Asp768=
XM_017014256.1:c.1719C>T	XP_016869745.1:p.Asp573=
NM_138691.3:c.1716C>T MANE Select	NP_619636.2:p.Asp572=