Canonical Allele Identifier: CA142061

Gene: TMC1

Linked Data

• ClinVar Variation Id: 47863
• ClinVar RCV Id: RCV000041133 ; RCV000262110 ; RCV000303152 ; RCV002054801
• dbSNP Id: rs34532421
• ExAC: 9:75431076 C / T
• gnomAD v2: 9-75431076-C-T
• gnomAD v3: 9-72816160-C-T
• gnomAD v4: 9-72816160-C-T
• MyVariant Identifiers: chr9:g.75431076C>T (hg19) ; chr9:g.72816160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816160C>T , CM000671.2:g.72816160C>T	GRCh38
NC_000009.11:g.75431076C>T , CM000671.1:g.75431076C>T	GRCh37
NC_000009.10:g.74620896C>T	NCBI36
NG_008213.1:g.299360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1713C>T MANE Select	ENSP00000297784.6:p.Phe571=
ENST00000644967.1:c.1275C>T	ENSP00000496159.1:p.Phe425=
ENST00000645053.1:c.1257+10650C>T	ENSP00000493838.1:n.1257+10650C>T
ENST00000645208.2:c.1713C>T	ENSP00000494684.1:p.Phe571=
ENST00000645773.1:c.1587C>T	ENSP00000493698.1:p.Phe529=
ENST00000645787.1:n.1856C>T
ENST00000646619.1:c.1275C>T	ENSP00000493726.1:p.Phe425=
ENST00000651183.1:c.1275C>T	ENSP00000498723.1:p.Phe425=
ENST00000297784.9:c.1713C>T	ENSP00000297784.5:p.Phe571=
ENST00000340019.4:c.1713C>T	ENSP00000341433.3:p.Phe571=
ENST00000469455.1:n.194C>T
ENST00000486417.5:n.337C>T
NM_138691.2:c.1713C>T	NP_619636.2:p.Phe571=
XM_011518213.1:c.2301C>T	XP_011516515.1:p.Phe767=
XM_017014256.1:c.1716C>T	XP_016869745.1:p.Phe572=
NM_138691.3:c.1713C>T MANE Select	NP_619636.2:p.Phe571=