Canonical Allele Identifier: CA358735
Gene: EMC1 HGNC NCBI
EMC1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219101
dbSNP Id: rs869320626

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19220834C>T , CM000663.2:g.19220834C>T GRCh38
NC_000001.10:g.19547328C>T , CM000663.1:g.19547328C>T GRCh37
NC_000001.9:g.19419915C>T NCBI36
NG_032948.1:g.35726G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000486405.2:c.2611G>A (EMC1) ENSP00000419345.2:p.Gly871Arg
ENST00000494770.7:c.858G>A (EMC1) ENSP00000508929.1:n.858G>A
ENST00000685099.1:c.*2881G>A (EMC1) ENSP00000509737.1:n.*2881G>A
ENST00000685594.1:c.*1228G>A (EMC1) ENSP00000510232.1:n.*1228G>A
ENST00000688219.1:c.2479G>A (EMC1) ENSP00000510231.1:p.Gly827Arg
ENST00000688332.1:c.2430G>A (EMC1)
ENST00000688667.1:c.2588-24G>A (EMC1) ENSP00000509418.1:n.2588-24G>A
ENST00000688918.1:n.1156G>A (EMC1)
ENST00000690451.1:n.4050G>A (EMC1)
ENST00000690732.1:c.2440G>A (EMC1) ENSP00000510581.1:p.Gly814Arg
ENST00000690823.1:c.2596G>A (EMC1) ENSP00000509286.1:p.Gly866Arg
ENST00000691945.1:n.1278G>A (EMC1)
ENST00000692207.1:c.*2366G>A (EMC1) ENSP00000509071.1:n.*2366G>A
ENST00000693007.1:n.2011G>A (EMC1)
ENST00000477853.6:c.2602G>A (EMC1) MANE Select ENSP00000420608.1:p.Gly868Arg
ENST00000494770.6:n.579G>A (EMC1)
ENST00000375199.7:c.2599G>A (EMC1) ENSP00000364345.3:p.Gly867Arg
ENST00000375208.7:c.2536G>A (EMC1) ENSP00000364354.3:p.Gly846Arg
ENST00000461353.1:n.372G>A (EMC1)
ENST00000462505.1:n.399G>A (EMC1)
ENST00000477853.5:c.2602G>A (EMC1) ENSP00000420608.1:p.Gly868Arg
ENST00000480380.1:n.1083G>A (EMC1)
ENST00000486238.1:c.153G>A (EMC1)
ENST00000486405.1:c.323-24G>A (EMC1) ENSP00000419345.1:n.323-24G>A
ENST00000494770.5:n.579G>A (EMC1)
ENST00000496654.1:n.64-24G>A (EMC1)
NM_001271427.1:c.2599G>A (EMC1) NP_001258356.1:p.Gly867Arg
NM_001271428.1:c.2599G>A (EMC1) NP_001258357.1:p.Gly867Arg
NM_001271429.1:c.2536G>A (EMC1) NP_001258358.1:p.Gly846Arg
NM_015047.2:c.2602G>A (EMC1) NP_055862.1:p.Gly868Arg
XM_005245787.1:c.2611G>A (EMC1) XP_005245844.1:p.Gly871Arg
XM_005245788.1:c.2608G>A (EMC1) XP_005245845.1:p.Gly870Arg
XR_241220.2:n.195+10275C>T (EMC1-AS1)
NR_135114.1:n.174+10275C>T (EMC1-AS1)
NR_135115.1:n.175-9013C>T (EMC1-AS1)
XM_005245787.2:c.2611G>A (EMC1) XP_005245844.1:p.Gly871Arg
XM_005245788.2:c.2608G>A (EMC1) XP_005245845.1:p.Gly870Arg
NM_015047.3:c.2602G>A (EMC1) MANE Select NP_055862.1:p.Gly868Arg
NM_001271427.2:c.2599G>A (EMC1) NP_001258356.1:p.Gly867Arg
NM_001271428.2:c.2599G>A (EMC1) NP_001258357.1:p.Gly867Arg
NM_001271429.2:c.2536G>A (EMC1) NP_001258358.1:p.Gly846Arg
NM_001375820.1:c.2611G>A (EMC1) NP_001362749.1:p.Gly871Arg
NM_001375821.1:c.2608G>A (EMC1) NP_001362750.1:p.Gly870Arg