Canonical Allele Identifier: CA373505009

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404181A>T (hg19) ; chr9:g.72789265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789265A>T , CM000671.2:g.72789265A>T	GRCh38
NC_000009.11:g.75404181A>T , CM000671.1:g.75404181A>T	GRCh37
NC_000009.10:g.74594001A>T	NCBI36
NG_008213.1:g.272465A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1172A>T MANE Select	ENSP00000297784.6:p.Gln391Leu
ENST00000644967.1:c.734A>T	ENSP00000496159.1:p.Gln245Leu
ENST00000645053.1:c.734A>T	ENSP00000493838.1:p.Gln245Leu
ENST00000645208.2:c.1172A>T	ENSP00000494684.1:p.Gln391Leu
ENST00000645773.1:c.1046A>T	ENSP00000493698.1:p.Gln349Leu
ENST00000645787.1:n.1212A>T
ENST00000646619.1:c.734A>T	ENSP00000493726.1:p.Gln245Leu
ENST00000650689.1:n.1470A>T
ENST00000651183.1:c.734A>T	ENSP00000498723.1:p.Gln245Leu
ENST00000297784.9:c.1172A>T	ENSP00000297784.5:p.Gln391Leu
ENST00000340019.4:c.1172A>T	ENSP00000341433.3:p.Gln391Leu
NM_138691.2:c.1172A>T	NP_619636.2:p.Gln391Leu
XM_011518213.1:c.1760A>T	XP_011516515.1:p.Gln587Leu
XM_017014256.1:c.1175A>T	XP_016869745.1:p.Gln392Leu
NM_138691.3:c.1172A>T MANE Select	NP_619636.2:p.Gln391Leu