Canonical Allele Identifier: CA5082097

Gene: TMC1

Linked Data

• ClinVar Variation Id: 228408
• ClinVar RCV Id: RCV000221167 ; RCV000225028 ; RCV000225055 ; RCV000225096 ; RCV000225097 ; RCV001782704
• dbSNP Id: rs138527651
• ExAC: 9:75435933 T / C
• gnomAD v2: 9-75435933-T-C
• gnomAD v3: 9-72821017-T-C
• gnomAD v4: 9-72821017-T-C
• MyVariant Identifiers: chr9:g.75435933T>C (hg19) ; chr9:g.72821017T>C (hg38)
• PubMed: PMID:21917145

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821017T>C , CM000671.2:g.72821017T>C	GRCh38
NC_000009.11:g.75435933T>C , CM000671.1:g.75435933T>C	GRCh37
NC_000009.10:g.74625753T>C	NCBI36
NG_008213.1:g.304217T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1939T>C MANE Select	ENSP00000297784.6:p.Ser647Pro
ENST00000644967.1:c.*379T>C	ENSP00000496159.1:n.*379T>C
ENST00000645053.1:c.1258-5852T>C	ENSP00000493838.1:n.1258-5852T>C
ENST00000645208.2:c.1939T>C	ENSP00000494684.1:p.Ser647Pro
ENST00000645773.1:c.1813T>C	ENSP00000493698.1:p.Ser605Pro
ENST00000645787.1:n.2082T>C
ENST00000646619.1:c.1501T>C	ENSP00000493726.1:p.Ser501Pro
ENST00000651183.1:c.1501T>C	ENSP00000498723.1:p.Ser501Pro
ENST00000297784.9:c.1939T>C	ENSP00000297784.5:p.Ser647Pro
ENST00000340019.4:c.1939T>C	ENSP00000341433.3:p.Ser647Pro
ENST00000469455.1:n.420T>C
ENST00000486417.5:n.837T>C
NM_138691.2:c.1939T>C	NP_619636.2:p.Ser647Pro
XM_011518213.1:c.2527T>C	XP_011516515.1:p.Ser843Pro
XM_017014256.1:c.1942T>C	XP_016869745.1:p.Ser648Pro
NM_138691.3:c.1939T>C MANE Select	NP_619636.2:p.Ser647Pro