Canonical Allele Identifier: CA5081915

Gene: TMC1

Linked Data

• dbSNP Id: rs750563026
• ExAC: 9:75406856 T / C
• gnomAD v2: 9-75406856-T-C
• gnomAD v3: 9-72791940-T-C
• gnomAD v4: 9-72791940-T-C
• MyVariant Identifiers: chr9:g.75406856T>C (hg19) ; chr9:g.72791940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791940T>C , CM000671.2:g.72791940T>C	GRCh38
NC_000009.11:g.75406856T>C , CM000671.1:g.75406856T>C	GRCh37
NC_000009.10:g.74596676T>C	NCBI36
NG_008213.1:g.275140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1279T>C MANE Select	ENSP00000297784.6:p.Phe427Leu
ENST00000644967.1:c.841T>C	ENSP00000496159.1:p.Phe281Leu
ENST00000645053.1:c.841T>C	ENSP00000493838.1:p.Phe281Leu
ENST00000645208.2:c.1279T>C	ENSP00000494684.1:p.Phe427Leu
ENST00000645773.1:c.1153T>C	ENSP00000493698.1:p.Phe385Leu
ENST00000645787.1:n.1319T>C
ENST00000646619.1:c.841T>C	ENSP00000493726.1:p.Phe281Leu
ENST00000650689.1:n.1577T>C
ENST00000651183.1:c.841T>C	ENSP00000498723.1:p.Phe281Leu
ENST00000297784.9:c.1279T>C	ENSP00000297784.5:p.Phe427Leu
ENST00000340019.4:c.1279T>C	ENSP00000341433.3:p.Phe427Leu
NM_138691.2:c.1279T>C	NP_619636.2:p.Phe427Leu
XM_011518213.1:c.1867T>C	XP_011516515.1:p.Phe623Leu
XM_017014256.1:c.1282T>C	XP_016869745.1:p.Phe428Leu
NM_138691.3:c.1279T>C MANE Select	NP_619636.2:p.Phe427Leu