Canonical Allele Identifier: CA373668260

Gene: TMC1

Linked Data

• dbSNP Id: rs1297602315
• gnomAD v3: 9-72816158-T-C
• gnomAD v4: 9-72816158-T-C
• MyVariant Identifiers: chr9:g.75431074T>C (hg19) ; chr9:g.72816158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816158T>C , CM000671.2:g.72816158T>C	GRCh38
NC_000009.11:g.75431074T>C , CM000671.1:g.75431074T>C	GRCh37
NC_000009.10:g.74620894T>C	NCBI36
NG_008213.1:g.299358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1711T>C MANE Select	ENSP00000297784.6:p.Phe571Leu
ENST00000644967.1:c.1273T>C	ENSP00000496159.1:p.Phe425Leu
ENST00000645053.1:c.1257+10648T>C	ENSP00000493838.1:n.1257+10648T>C
ENST00000645208.2:c.1711T>C	ENSP00000494684.1:p.Phe571Leu
ENST00000645773.1:c.1585T>C	ENSP00000493698.1:p.Phe529Leu
ENST00000645787.1:n.1854T>C
ENST00000646619.1:c.1273T>C	ENSP00000493726.1:p.Phe425Leu
ENST00000651183.1:c.1273T>C	ENSP00000498723.1:p.Phe425Leu
ENST00000297784.9:c.1711T>C	ENSP00000297784.5:p.Phe571Leu
ENST00000340019.4:c.1711T>C	ENSP00000341433.3:p.Phe571Leu
ENST00000469455.1:n.192T>C
ENST00000486417.5:n.335T>C
NM_138691.2:c.1711T>C	NP_619636.2:p.Phe571Leu
XM_011518213.1:c.2299T>C	XP_011516515.1:p.Phe767Leu
XM_017014256.1:c.1714T>C	XP_016869745.1:p.Phe572Leu
NM_138691.3:c.1711T>C MANE Select	NP_619636.2:p.Phe571Leu