Canonical Allele Identifier: CA338752596

Gene: EMC1 EMC1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.19547339C>G (hg19) ; chr1:g.19220845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19220845C>G , CM000663.2:g.19220845C>G	GRCh38
NC_000001.10:g.19547339C>G , CM000663.1:g.19547339C>G	GRCh37
NC_000001.9:g.19419926C>G	NCBI36
NG_032948.1:g.35715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486405.2:c.2600G>C (EMC1)	ENSP00000419345.2:p.Gly867Ala
ENST00000494770.7:c.847G>C (EMC1)	ENSP00000508929.1:n.847G>C
ENST00000685099.1:c.*2870G>C (EMC1)	ENSP00000509737.1:n.*2870G>C
ENST00000685594.1:c.*1217G>C (EMC1)	ENSP00000510232.1:n.*1217G>C
ENST00000688219.1:c.2468G>C (EMC1)	ENSP00000510231.1:p.Gly823Ala
ENST00000688332.1:c.2419G>C (EMC1)
ENST00000688667.1:c.2588-35G>C (EMC1)	ENSP00000509418.1:n.2588-35G>C
ENST00000688918.1:n.1145G>C (EMC1)
ENST00000690451.1:n.4039G>C (EMC1)
ENST00000690732.1:c.2429G>C (EMC1)	ENSP00000510581.1:p.Gly810Ala
ENST00000690823.1:c.2585G>C (EMC1)	ENSP00000509286.1:p.Gly862Ala
ENST00000691945.1:n.1267G>C (EMC1)
ENST00000692207.1:c.*2355G>C (EMC1)	ENSP00000509071.1:n.*2355G>C
ENST00000693007.1:n.2000G>C (EMC1)
ENST00000477853.6:c.2591G>C (EMC1) MANE Select	ENSP00000420608.1:p.Gly864Ala
ENST00000494770.6:n.568G>C (EMC1)
ENST00000375199.7:c.2588G>C (EMC1)	ENSP00000364345.3:p.Gly863Ala
ENST00000375208.7:c.2525G>C (EMC1)	ENSP00000364354.3:p.Gly842Ala
ENST00000461353.1:n.361G>C (EMC1)
ENST00000462505.1:n.388G>C (EMC1)
ENST00000477853.5:c.2591G>C (EMC1)	ENSP00000420608.1:p.Gly864Ala
ENST00000480380.1:n.1072G>C (EMC1)
ENST00000486238.1:c.142G>C (EMC1)
ENST00000486405.1:c.323-35G>C (EMC1)	ENSP00000419345.1:n.323-35G>C
ENST00000494770.5:n.568G>C (EMC1)
ENST00000496654.1:n.64-35G>C (EMC1)
NM_001271427.1:c.2588G>C (EMC1)	NP_001258356.1:p.Gly863Ala
NM_001271428.1:c.2588G>C (EMC1)	NP_001258357.1:p.Gly863Ala
NM_001271429.1:c.2525G>C (EMC1)	NP_001258358.1:p.Gly842Ala
NM_015047.2:c.2591G>C (EMC1)	NP_055862.1:p.Gly864Ala
XM_005245787.1:c.2600G>C (EMC1)	XP_005245844.1:p.Gly867Ala
XM_005245788.1:c.2597G>C (EMC1)	XP_005245845.1:p.Gly866Ala
XR_241220.2:n.195+10286C>G (EMC1-AS1)
NR_135114.1:n.174+10286C>G (EMC1-AS1)
NR_135115.1:n.175-9002C>G (EMC1-AS1)
XM_005245787.2:c.2600G>C (EMC1)	XP_005245844.1:p.Gly867Ala
XM_005245788.2:c.2597G>C (EMC1)	XP_005245845.1:p.Gly866Ala
NM_015047.3:c.2591G>C (EMC1) MANE Select	NP_055862.1:p.Gly864Ala
NM_001271427.2:c.2588G>C (EMC1)	NP_001258356.1:p.Gly863Ala
NM_001271428.2:c.2588G>C (EMC1)	NP_001258357.1:p.Gly863Ala
NM_001271429.2:c.2525G>C (EMC1)	NP_001258358.1:p.Gly842Ala
NM_001375820.1:c.2600G>C (EMC1)	NP_001362749.1:p.Gly867Ala
NM_001375821.1:c.2597G>C (EMC1)	NP_001362750.1:p.Gly866Ala