Canonical Allele Identifier: CA373724499

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75315483T>A (hg19) ; chr9:g.72700567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700567T>A , CM000671.2:g.72700567T>A	GRCh38
NC_000009.11:g.75315483T>A , CM000671.1:g.75315483T>A	GRCh37
NC_000009.10:g.74505303T>A	NCBI36
NG_008213.1:g.183767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.286T>A MANE Select	ENSP00000297784.6:p.Leu96Ile
ENST00000644967.1:c.-77+5853T>A	ENSP00000496159.1:n.-77+5853T>A
ENST00000645053.1:c.-77+5853T>A	ENSP00000493838.1:n.-77+5853T>A
ENST00000645208.2:c.286T>A	ENSP00000494684.1:p.Leu96Ile
ENST00000645773.1:c.236+5853T>A	ENSP00000493698.1:n.236+5853T>A
ENST00000645787.1:n.326T>A
ENST00000646244.1:n.736T>A
ENST00000646619.1:c.-77+5853T>A	ENSP00000493726.1:n.-77+5853T>A
ENST00000650689.1:n.660+5853T>A
ENST00000651183.1:c.-77+5853T>A	ENSP00000498723.1:n.-77+5853T>A
ENST00000297784.9:c.286T>A	ENSP00000297784.5:p.Leu96Ile
ENST00000340019.4:c.286T>A	ENSP00000341433.3:p.Leu96Ile
NM_138691.2:c.286T>A	NP_619636.2:p.Leu96Ile
XM_011518213.1:c.874T>A	XP_011516515.1:p.Leu292Ile
XM_017014256.1:c.289T>A	XP_016869745.1:p.Leu97Ile
NM_138691.3:c.286T>A MANE Select	NP_619636.2:p.Leu96Ile