Canonical Allele Identifier: CA373668437

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1799539
• ClinVar RCV Id: RCV002444383 ; RCV003660967
• dbSNP Id: rs758288878
• gnomAD v3: 9-72816197-C-T
• gnomAD v4: 9-72816197-C-T
• MyVariant Identifiers: chr9:g.75431113C>T (hg19) ; chr9:g.72816197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816197C>T , CM000671.2:g.72816197C>T	GRCh38
NC_000009.11:g.75431113C>T , CM000671.1:g.75431113C>T	GRCh37
NC_000009.10:g.74620933C>T	NCBI36
NG_008213.1:g.299397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1750C>T MANE Select	ENSP00000297784.6:p.Gln584Ter
ENST00000644967.1:c.1312C>T	ENSP00000496159.1:p.Gln438Ter
ENST00000645053.1:c.1258-10672C>T	ENSP00000493838.1:n.1258-10672C>T
ENST00000645208.2:c.1750C>T	ENSP00000494684.1:p.Gln584Ter
ENST00000645773.1:c.1624C>T	ENSP00000493698.1:p.Gln542Ter
ENST00000645787.1:n.1893C>T
ENST00000646619.1:c.1312C>T	ENSP00000493726.1:p.Gln438Ter
ENST00000651183.1:c.1312C>T	ENSP00000498723.1:p.Gln438Ter
ENST00000297784.9:c.1750C>T	ENSP00000297784.5:p.Gln584Ter
ENST00000340019.4:c.1750C>T	ENSP00000341433.3:p.Gln584Ter
ENST00000469455.1:n.231C>T
ENST00000486417.5:n.374C>T
NM_138691.2:c.1750C>T	NP_619636.2:p.Gln584Ter
XM_011518213.1:c.2338C>T	XP_011516515.1:p.Gln780Ter
XM_017014256.1:c.1753C>T	XP_016869745.1:p.Gln585Ter
NM_138691.3:c.1750C>T MANE Select	NP_619636.2:p.Gln584Ter