Canonical Allele Identifier: CA373724626

Gene: TMC1

Linked Data

• COSMIC: COSM4822742
• MyVariant Identifiers: chr9:g.75315537G>A (hg19) ; chr9:g.72700621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700621G>A , CM000671.2:g.72700621G>A	GRCh38
NC_000009.11:g.75315537G>A , CM000671.1:g.75315537G>A	GRCh37
NC_000009.10:g.74505357G>A	NCBI36
NG_008213.1:g.183821G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.340G>A MANE Select	ENSP00000297784.6:p.Glu114Lys
ENST00000644967.1:c.-77+5907G>A	ENSP00000496159.1:n.-77+5907G>A
ENST00000645053.1:c.-77+5907G>A	ENSP00000493838.1:n.-77+5907G>A
ENST00000645208.2:c.340G>A	ENSP00000494684.1:p.Glu114Lys
ENST00000645773.1:c.236+5907G>A	ENSP00000493698.1:n.236+5907G>A
ENST00000645787.1:n.380G>A
ENST00000646244.1:n.790G>A
ENST00000646619.1:c.-77+5907G>A	ENSP00000493726.1:n.-77+5907G>A
ENST00000650689.1:n.660+5907G>A
ENST00000651183.1:c.-77+5907G>A	ENSP00000498723.1:n.-77+5907G>A
ENST00000297784.9:c.340G>A	ENSP00000297784.5:p.Glu114Lys
ENST00000340019.4:c.340G>A	ENSP00000341433.3:p.Glu114Lys
NM_138691.2:c.340G>A	NP_619636.2:p.Glu114Lys
XM_011518213.1:c.928G>A	XP_011516515.1:p.Glu310Lys
XM_017014256.1:c.343G>A	XP_016869745.1:p.Glu115Lys
NM_138691.3:c.340G>A MANE Select	NP_619636.2:p.Glu114Lys