Canonical Allele Identifier: CA465492671

Gene: TMC1

Linked Data

• dbSNP Id: rs1314248683
• gnomAD v2: 9-75435881-T-C
• gnomAD v3: 9-72820965-T-C
• gnomAD v4: 9-72820965-T-C
• MyVariant Identifiers: chr9:g.75435881T>C (hg19) ; chr9:g.72820965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820965T>C , CM000671.2:g.72820965T>C	GRCh38
NC_000009.11:g.75435881T>C , CM000671.1:g.75435881T>C	GRCh37
NC_000009.10:g.74625701T>C	NCBI36
NG_008213.1:g.304165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1887T>C MANE Select	ENSP00000297784.6:p.Ala629=
ENST00000644967.1:c.*327T>C	ENSP00000496159.1:n.*327T>C
ENST00000645053.1:c.1258-5904T>C	ENSP00000493838.1:n.1258-5904T>C
ENST00000645208.2:c.1887T>C	ENSP00000494684.1:p.Ala629=
ENST00000645773.1:c.1761T>C	ENSP00000493698.1:p.Ala587=
ENST00000645787.1:n.2030T>C
ENST00000646619.1:c.1449T>C	ENSP00000493726.1:p.Ala483=
ENST00000651183.1:c.1449T>C	ENSP00000498723.1:p.Ala483=
ENST00000297784.9:c.1887T>C	ENSP00000297784.5:p.Ala629=
ENST00000340019.4:c.1887T>C	ENSP00000341433.3:p.Ala629=
ENST00000469455.1:n.368T>C
ENST00000486417.5:n.785T>C
NM_138691.2:c.1887T>C	NP_619636.2:p.Ala629=
XM_011518213.1:c.2475T>C	XP_011516515.1:p.Ala825=
XM_017014256.1:c.1890T>C	XP_016869745.1:p.Ala630=
NM_138691.3:c.1887T>C MANE Select	NP_619636.2:p.Ala629=