Canonical Allele Identifier: CA193301096

Gene: TMC1

Linked Data

• dbSNP Id: rs868082421
• gnomAD v2: 9-75406842-C-T
• gnomAD v3: 9-72791926-C-T
• gnomAD v4: 9-72791926-C-T
• MyVariant Identifiers: chr9:g.75406842C>T (hg19) ; chr9:g.72791926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791926C>T , CM000671.2:g.72791926C>T	GRCh38
NC_000009.11:g.75406842C>T , CM000671.1:g.75406842C>T	GRCh37
NC_000009.10:g.74596662C>T	NCBI36
NG_008213.1:g.275126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1265C>T MANE Select	ENSP00000297784.6:p.Thr422Ile
ENST00000644967.1:c.827C>T	ENSP00000496159.1:p.Thr276Ile
ENST00000645053.1:c.827C>T	ENSP00000493838.1:p.Thr276Ile
ENST00000645208.2:c.1265C>T	ENSP00000494684.1:p.Thr422Ile
ENST00000645773.1:c.1139C>T	ENSP00000493698.1:p.Thr380Ile
ENST00000645787.1:n.1305C>T
ENST00000646619.1:c.827C>T	ENSP00000493726.1:p.Thr276Ile
ENST00000650689.1:n.1563C>T
ENST00000651183.1:c.827C>T	ENSP00000498723.1:p.Thr276Ile
ENST00000297784.9:c.1265C>T	ENSP00000297784.5:p.Thr422Ile
ENST00000340019.4:c.1265C>T	ENSP00000341433.3:p.Thr422Ile
NM_138691.2:c.1265C>T	NP_619636.2:p.Thr422Ile
XM_011518213.1:c.1853C>T	XP_011516515.1:p.Thr618Ile
XM_017014256.1:c.1268C>T	XP_016869745.1:p.Thr423Ile
NM_138691.3:c.1265C>T MANE Select	NP_619636.2:p.Thr422Ile