Canonical Allele Identifier: CA373505986

Gene: TMC1

Linked Data

• dbSNP Id: rs1490380695
• gnomAD v2: 9-75406848-T-C
• COSMIC: COSM1726716
• MyVariant Identifiers: chr9:g.75406848T>C (hg19) ; chr9:g.72791932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791932T>C , CM000671.2:g.72791932T>C	GRCh38
NC_000009.11:g.75406848T>C , CM000671.1:g.75406848T>C	GRCh37
NC_000009.10:g.74596668T>C	NCBI36
NG_008213.1:g.275132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1271T>C MANE Select	ENSP00000297784.6:p.Phe424Ser
ENST00000644967.1:c.833T>C	ENSP00000496159.1:p.Phe278Ser
ENST00000645053.1:c.833T>C	ENSP00000493838.1:p.Phe278Ser
ENST00000645208.2:c.1271T>C	ENSP00000494684.1:p.Phe424Ser
ENST00000645773.1:c.1145T>C	ENSP00000493698.1:p.Phe382Ser
ENST00000645787.1:n.1311T>C
ENST00000646619.1:c.833T>C	ENSP00000493726.1:p.Phe278Ser
ENST00000650689.1:n.1569T>C
ENST00000651183.1:c.833T>C	ENSP00000498723.1:p.Phe278Ser
ENST00000297784.9:c.1271T>C	ENSP00000297784.5:p.Phe424Ser
ENST00000340019.4:c.1271T>C	ENSP00000341433.3:p.Phe424Ser
NM_138691.2:c.1271T>C	NP_619636.2:p.Phe424Ser
XM_011518213.1:c.1859T>C	XP_011516515.1:p.Phe620Ser
XM_017014256.1:c.1274T>C	XP_016869745.1:p.Phe425Ser
NM_138691.3:c.1271T>C MANE Select	NP_619636.2:p.Phe424Ser