Canonical Allele Identifier: CA373668344

Gene: TMC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816175C>A , CM000671.2:g.72816175C>A	GRCh38
NC_000009.11:g.75431091C>A , CM000671.1:g.75431091C>A	GRCh37
NC_000009.10:g.74620911C>A	NCBI36
NG_008213.1:g.299375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1728C>A MANE Select	ENSP00000297784.6:p.Asn576Lys
ENST00000644967.1:c.1290C>A	ENSP00000496159.1:p.Asn430Lys
ENST00000645053.1:c.1257+10665C>A	ENSP00000493838.1:n.1257+10665C>A
ENST00000645208.2:c.1728C>A	ENSP00000494684.1:p.Asn576Lys
ENST00000645773.1:c.1602C>A	ENSP00000493698.1:p.Asn534Lys
ENST00000645787.1:n.1871C>A
ENST00000646619.1:c.1290C>A	ENSP00000493726.1:p.Asn430Lys
ENST00000651183.1:c.1290C>A	ENSP00000498723.1:p.Asn430Lys
ENST00000297784.9:c.1728C>A	ENSP00000297784.5:p.Asn576Lys
ENST00000340019.4:c.1728C>A	ENSP00000341433.3:p.Asn576Lys
ENST00000469455.1:n.209C>A
ENST00000486417.5:n.352C>A
NM_138691.2:c.1728C>A	NP_619636.2:p.Asn576Lys
XM_011518213.1:c.2316C>A	XP_011516515.1:p.Asn772Lys
XM_017014256.1:c.1731C>A	XP_016869745.1:p.Asn577Lys
NM_138691.3:c.1728C>A MANE Select	NP_619636.2:p.Asn576Lys