Canonical Allele Identifier: CA373670249

Gene: TMC1

Linked Data

• dbSNP Id: rs1169933015
• gnomAD v2: 9-75435942-C-T
• gnomAD v4: 9-72821026-C-T
• COSMIC: COSM5476887
• MyVariant Identifiers: chr9:g.75435942C>T (hg19) ; chr9:g.72821026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821026C>T , CM000671.2:g.72821026C>T	GRCh38
NC_000009.11:g.75435942C>T , CM000671.1:g.75435942C>T	GRCh37
NC_000009.10:g.74625762C>T	NCBI36
NG_008213.1:g.304226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1948C>T MANE Select	ENSP00000297784.6:p.Pro650Ser
ENST00000644967.1:c.*388C>T	ENSP00000496159.1:n.*388C>T
ENST00000645053.1:c.1258-5843C>T	ENSP00000493838.1:n.1258-5843C>T
ENST00000645208.2:c.1948C>T	ENSP00000494684.1:p.Pro650Ser
ENST00000645773.1:c.1822C>T	ENSP00000493698.1:p.Pro608Ser
ENST00000645787.1:n.2091C>T
ENST00000646619.1:c.1510C>T	ENSP00000493726.1:p.Pro504Ser
ENST00000651183.1:c.1510C>T	ENSP00000498723.1:p.Pro504Ser
ENST00000297784.9:c.1948C>T	ENSP00000297784.5:p.Pro650Ser
ENST00000340019.4:c.1948C>T	ENSP00000341433.3:p.Pro650Ser
ENST00000469455.1:n.429C>T
ENST00000486417.5:n.846C>T
NM_138691.2:c.1948C>T	NP_619636.2:p.Pro650Ser
XM_011518213.1:c.2536C>T	XP_011516515.1:p.Pro846Ser
XM_017014256.1:c.1951C>T	XP_016869745.1:p.Pro651Ser
NM_138691.3:c.1948C>T MANE Select	NP_619636.2:p.Pro650Ser