Canonical Allele Identifier: CA373505026

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404188T>A (hg19) ; chr9:g.72789272T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789272T>A , CM000671.2:g.72789272T>A	GRCh38
NC_000009.11:g.75404188T>A , CM000671.1:g.75404188T>A	GRCh37
NC_000009.10:g.74594008T>A	NCBI36
NG_008213.1:g.272472T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1179T>A MANE Select	ENSP00000297784.6:p.Phe393Leu
ENST00000644967.1:c.741T>A	ENSP00000496159.1:p.Phe247Leu
ENST00000645053.1:c.741T>A	ENSP00000493838.1:p.Phe247Leu
ENST00000645208.2:c.1179T>A	ENSP00000494684.1:p.Phe393Leu
ENST00000645773.1:c.1053T>A	ENSP00000493698.1:p.Phe351Leu
ENST00000645787.1:n.1219T>A
ENST00000646619.1:c.741T>A	ENSP00000493726.1:p.Phe247Leu
ENST00000650689.1:n.1477T>A
ENST00000651183.1:c.741T>A	ENSP00000498723.1:p.Phe247Leu
ENST00000297784.9:c.1179T>A	ENSP00000297784.5:p.Phe393Leu
ENST00000340019.4:c.1179T>A	ENSP00000341433.3:p.Phe393Leu
NM_138691.2:c.1179T>A	NP_619636.2:p.Phe393Leu
XM_011518213.1:c.1767T>A	XP_011516515.1:p.Phe589Leu
XM_017014256.1:c.1182T>A	XP_016869745.1:p.Phe394Leu
NM_138691.3:c.1179T>A MANE Select	NP_619636.2:p.Phe393Leu