Canonical Allele Identifier: CA373504997

Gene: TMC1

Linked Data

• gnomAD v4: 9-72789259-G-C
• MyVariant Identifiers: chr9:g.75404175G>C (hg19) ; chr9:g.72789259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789259G>C , CM000671.2:g.72789259G>C	GRCh38
NC_000009.11:g.75404175G>C , CM000671.1:g.75404175G>C	GRCh37
NC_000009.10:g.74593995G>C	NCBI36
NG_008213.1:g.272459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1166G>C MANE Select	ENSP00000297784.6:p.Arg389Pro
ENST00000644967.1:c.728G>C	ENSP00000496159.1:p.Arg243Pro
ENST00000645053.1:c.728G>C	ENSP00000493838.1:p.Arg243Pro
ENST00000645208.2:c.1166G>C	ENSP00000494684.1:p.Arg389Pro
ENST00000645773.1:c.1040G>C	ENSP00000493698.1:p.Arg347Pro
ENST00000645787.1:n.1206G>C
ENST00000646619.1:c.728G>C	ENSP00000493726.1:p.Arg243Pro
ENST00000650689.1:n.1464G>C
ENST00000651183.1:c.728G>C	ENSP00000498723.1:p.Arg243Pro
ENST00000297784.9:c.1166G>C	ENSP00000297784.5:p.Arg389Pro
ENST00000340019.4:c.1166G>C	ENSP00000341433.3:p.Arg389Pro
NM_138691.2:c.1166G>C	NP_619636.2:p.Arg389Pro
XM_011518213.1:c.1754G>C	XP_011516515.1:p.Arg585Pro
XM_017014256.1:c.1169G>C	XP_016869745.1:p.Arg390Pro
NM_138691.3:c.1166G>C MANE Select	NP_619636.2:p.Arg389Pro