Canonical Allele Identifier: CA373723729

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75309507T>A (hg19) ; chr9:g.72694591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694591T>A , CM000671.2:g.72694591T>A	GRCh38
NC_000009.11:g.75309507T>A , CM000671.1:g.75309507T>A	GRCh37
NC_000009.10:g.74499327T>A	NCBI36
NG_008213.1:g.177791T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.113T>A MANE Select	ENSP00000297784.6:p.Leu38Ter
ENST00000644967.1:c.-200T>A	ENSP00000496159.1:n.-200T>A
ENST00000645053.1:c.-200T>A	ENSP00000493838.1:n.-200T>A
ENST00000645208.2:c.113T>A	ENSP00000494684.1:p.Leu38Ter
ENST00000645773.1:c.113T>A	ENSP00000493698.1:p.Leu38Ter
ENST00000645787.1:n.153T>A
ENST00000646244.1:n.563T>A
ENST00000646619.1:c.-200T>A	ENSP00000493726.1:n.-200T>A
ENST00000650689.1:n.537T>A
ENST00000651183.1:c.-200T>A	ENSP00000498723.1:n.-200T>A
ENST00000297784.9:c.113T>A	ENSP00000297784.5:p.Leu38Ter
ENST00000340019.4:c.113T>A	ENSP00000341433.3:p.Leu38Ter
NM_138691.2:c.113T>A	NP_619636.2:p.Leu38Ter
XM_011518213.1:c.701T>A	XP_011516515.1:p.Leu234Ter
XM_017014256.1:c.116T>A	XP_016869745.1:p.Leu39Ter
NM_138691.3:c.113T>A MANE Select	NP_619636.2:p.Leu38Ter