Canonical Allele Identifier: CA465187160

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2982926
• ClinVar RCV Id: RCV003845557
• dbSNP Id: rs1828275619
• gnomAD v3: 9-72791937-T-C
• gnomAD v4: 9-72791937-T-C
• MyVariant Identifiers: chr9:g.75406853T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791937T>C , CM000671.2:g.72791937T>C	GRCh38
NC_000009.11:g.75406853T>C , CM000671.1:g.75406853T>C	GRCh37
NC_000009.10:g.74596673T>C	NCBI36
NG_008213.1:g.275137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1276T>C MANE Select	ENSP00000297784.6:p.Leu426=
ENST00000644967.1:c.838T>C	ENSP00000496159.1:p.Leu280=
ENST00000645053.1:c.838T>C	ENSP00000493838.1:p.Leu280=
ENST00000645208.2:c.1276T>C	ENSP00000494684.1:p.Leu426=
ENST00000645773.1:c.1150T>C	ENSP00000493698.1:p.Leu384=
ENST00000645787.1:n.1316T>C
ENST00000646619.1:c.838T>C	ENSP00000493726.1:p.Leu280=
ENST00000650689.1:n.1574T>C
ENST00000651183.1:c.838T>C	ENSP00000498723.1:p.Leu280=
ENST00000297784.9:c.1276T>C	ENSP00000297784.5:p.Leu426=
ENST00000340019.4:c.1276T>C	ENSP00000341433.3:p.Leu426=
NM_138691.2:c.1276T>C	NP_619636.2:p.Leu426=
XM_011518213.1:c.1864T>C	XP_011516515.1:p.Leu622=
XM_017014256.1:c.1279T>C	XP_016869745.1:p.Leu427=
NM_138691.3:c.1276T>C MANE Select	NP_619636.2:p.Leu426=