Canonical Allele Identifier: CA465492739

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435932G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821016G>C , CM000671.2:g.72821016G>C	GRCh38
NC_000009.11:g.75435932G>C , CM000671.1:g.75435932G>C	GRCh37
NC_000009.10:g.74625752G>C	NCBI36
NG_008213.1:g.304216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1938G>C MANE Select	ENSP00000297784.6:p.Leu646=
ENST00000644967.1:c.*378G>C	ENSP00000496159.1:n.*378G>C
ENST00000645053.1:c.1258-5853G>C	ENSP00000493838.1:n.1258-5853G>C
ENST00000645208.2:c.1938G>C	ENSP00000494684.1:p.Leu646=
ENST00000645773.1:c.1812G>C	ENSP00000493698.1:p.Leu604=
ENST00000645787.1:n.2081G>C
ENST00000646619.1:c.1500G>C	ENSP00000493726.1:p.Leu500=
ENST00000651183.1:c.1500G>C	ENSP00000498723.1:p.Leu500=
ENST00000297784.9:c.1938G>C	ENSP00000297784.5:p.Leu646=
ENST00000340019.4:c.1938G>C	ENSP00000341433.3:p.Leu646=
ENST00000469455.1:n.419G>C
ENST00000486417.5:n.836G>C
NM_138691.2:c.1938G>C	NP_619636.2:p.Leu646=
XM_011518213.1:c.2526G>C	XP_011516515.1:p.Leu842=
XM_017014256.1:c.1941G>C	XP_016869745.1:p.Leu647=
NM_138691.3:c.1938G>C MANE Select	NP_619636.2:p.Leu646=