Canonical Allele Identifier: CA339648

Gene: TMCO1

Linked Data

• ClinVar Variation Id: 218899
• ClinVar RCV Id: RCV000203247
• dbSNP Id: rs372701032
• MyVariant Identifiers: chr1:g.165721336C>G (hg19) ; chr1:g.165752099C>G (hg38)
• PubMed: PMID:4135405 ; PMID:24424126

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165752099C>G , CM000663.2:g.165752099C>G	GRCh38
NC_000001.10:g.165721336C>G , CM000663.1:g.165721336C>G	GRCh37
NC_000001.9:g.163987960C>G	NCBI36
NG_032004.1:g.21824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367881.11:c.323+3G>C MANE Select	ENSP00000356856.6:n.323+3G>C
ENST00000465705.4:c.*154+3G>C	ENSP00000463105.2:n.*154+3G>C
ENST00000476143.7:c.*113+3G>C	ENSP00000464127.2:n.*113+3G>C
ENST00000367881.9:c.476+3G>C	ENSP00000356856.5:n.476+3G>C
ENST00000392129.10:c.323+3G>C	ENSP00000375975.5:n.323+3G>C
ENST00000464650.5:c.71+3G>C	ENSP00000463951.1:n.71+3G>C
ENST00000465705.3:c.*154+3G>C	ENSP00000463105.1:n.*154+3G>C
ENST00000476143.6:c.400+3G>C
ENST00000481278.5:c.287+3G>C	ENSP00000462300.1:n.287+3G>C
ENST00000580248.5:c.71+3G>C	ENSP00000462588.1:n.71+3G>C
ENST00000612311.4:c.476+3G>C	ENSP00000480514.1:n.476+3G>C
NM_001256164.1:c.374+3G>C	NP_001243093.1:n.374+3G>C
NM_001256165.1:c.287+3G>C	NP_001243094.1:n.287+3G>C
NM_019026.4:c.476+3G>C	NP_061899.2:n.476+3G>C
NR_045818.1:n.417+3G>C
NM_001366129.1:c.323+3G>C	NP_001353058.1:n.323+3G>C
NM_019026.5:c.323+3G>C	NP_061899.3:n.323+3G>C
NM_019026.6:c.323+3G>C MANE Select	NP_061899.3:n.323+3G>C