Canonical Allele Identifier: CA465187148

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75406825A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791909A>T , CM000671.2:g.72791909A>T	GRCh38
NC_000009.11:g.75406825A>T , CM000671.1:g.75406825A>T	GRCh37
NC_000009.10:g.74596645A>T	NCBI36
NG_008213.1:g.275109A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1248A>T MANE Select	ENSP00000297784.6:p.Leu416=
ENST00000644967.1:c.810A>T	ENSP00000496159.1:p.Leu270=
ENST00000645053.1:c.810A>T	ENSP00000493838.1:p.Leu270=
ENST00000645208.2:c.1248A>T	ENSP00000494684.1:p.Leu416=
ENST00000645773.1:c.1122A>T	ENSP00000493698.1:p.Leu374=
ENST00000645787.1:n.1288A>T
ENST00000646619.1:c.810A>T	ENSP00000493726.1:p.Leu270=
ENST00000650689.1:n.1546A>T
ENST00000651183.1:c.810A>T	ENSP00000498723.1:p.Leu270=
ENST00000297784.9:c.1248A>T	ENSP00000297784.5:p.Leu416=
ENST00000340019.4:c.1248A>T	ENSP00000341433.3:p.Leu416=
NM_138691.2:c.1248A>T	NP_619636.2:p.Leu416=
XM_011518213.1:c.1836A>T	XP_011516515.1:p.Leu612=
XM_017014256.1:c.1251A>T	XP_016869745.1:p.Leu417=
NM_138691.3:c.1248A>T MANE Select	NP_619636.2:p.Leu416=