Canonical Allele Identifier: CA465189411

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75315515C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700599C>T , CM000671.2:g.72700599C>T	GRCh38
NC_000009.11:g.75315515C>T , CM000671.1:g.75315515C>T	GRCh37
NC_000009.10:g.74505335C>T	NCBI36
NG_008213.1:g.183799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.318C>T MANE Select	ENSP00000297784.6:p.Val106=
ENST00000644967.1:c.-77+5885C>T	ENSP00000496159.1:n.-77+5885C>T
ENST00000645053.1:c.-77+5885C>T	ENSP00000493838.1:n.-77+5885C>T
ENST00000645208.2:c.318C>T	ENSP00000494684.1:p.Val106=
ENST00000645773.1:c.236+5885C>T	ENSP00000493698.1:n.236+5885C>T
ENST00000645787.1:n.358C>T
ENST00000646244.1:n.768C>T
ENST00000646619.1:c.-77+5885C>T	ENSP00000493726.1:n.-77+5885C>T
ENST00000650689.1:n.660+5885C>T
ENST00000651183.1:c.-77+5885C>T	ENSP00000498723.1:n.-77+5885C>T
ENST00000297784.9:c.318C>T	ENSP00000297784.5:p.Val106=
ENST00000340019.4:c.318C>T	ENSP00000341433.3:p.Val106=
NM_138691.2:c.318C>T	NP_619636.2:p.Val106=
XM_011518213.1:c.906C>T	XP_011516515.1:p.Val302=
XM_017014256.1:c.321C>T	XP_016869745.1:p.Val107=
NM_138691.3:c.318C>T MANE Select	NP_619636.2:p.Val106=