Canonical Allele Identifier: CA5082016

Gene: TMC1

Linked Data

• ClinVar Variation Id: 3011516
• ClinVar RCV Id: RCV003865139
• dbSNP Id: rs760340183
• ExAC: 9:75420437 T / C
• gnomAD v2: 9-75420437-T-C
• gnomAD v4: 9-72805521-T-C
• MyVariant Identifiers: chr9:g.75420437T>C (hg19) ; chr9:g.72805521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805521T>C , CM000671.2:g.72805521T>C	GRCh38
NC_000009.11:g.75420437T>C , CM000671.1:g.75420437T>C	GRCh37
NC_000009.10:g.74610257T>C	NCBI36
NG_008213.1:g.288721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+11T>C MANE Select	ENSP00000297784.6:n.1695+11T>C
ENST00000644967.1:c.1257+11T>C	ENSP00000496159.1:n.1257+11T>C
ENST00000645053.1:c.1257+11T>C	ENSP00000493838.1:n.1257+11T>C
ENST00000645208.2:c.1695+11T>C	ENSP00000494684.1:n.1695+11T>C
ENST00000645773.1:c.1569+11T>C	ENSP00000493698.1:n.1569+11T>C
ENST00000645787.1:n.1838+11T>C
ENST00000646619.1:c.1257+11T>C	ENSP00000493726.1:n.1257+11T>C
ENST00000651183.1:c.1257+11T>C	ENSP00000498723.1:n.1257+11T>C
ENST00000297784.9:c.1695+11T>C	ENSP00000297784.5:n.1695+11T>C
ENST00000340019.4:c.1695+11T>C	ENSP00000341433.3:n.1695+11T>C
ENST00000486417.5:n.319+11T>C
NM_138691.2:c.1695+11T>C	NP_619636.2:n.1695+11T>C
XM_011518213.1:c.2283+11T>C	XP_011516515.1:n.2283+11T>C
XM_017014256.1:c.1698+11T>C	XP_016869745.1:n.1698+11T>C
NM_138691.3:c.1695+11T>C MANE Select	NP_619636.2:n.1695+11T>C