Canonical Allele Identifier: CA373668346

Gene: TMC1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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