Canonical Allele Identifier: CA338752555

Gene: EMC1 EMC1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.19547333G>T (hg19) ; chr1:g.19220839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19220839G>T , CM000663.2:g.19220839G>T	GRCh38
NC_000001.10:g.19547333G>T , CM000663.1:g.19547333G>T	GRCh37
NC_000001.9:g.19419920G>T	NCBI36
NG_032948.1:g.35721C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486405.2:c.2606C>A (EMC1)	ENSP00000419345.2:p.Pro869His
ENST00000494770.7:c.853C>A (EMC1)	ENSP00000508929.1:n.853C>A
ENST00000685099.1:c.*2876C>A (EMC1)	ENSP00000509737.1:n.*2876C>A
ENST00000685594.1:c.*1223C>A (EMC1)	ENSP00000510232.1:n.*1223C>A
ENST00000688219.1:c.2474C>A (EMC1)	ENSP00000510231.1:p.Pro825His
ENST00000688332.1:c.2425C>A (EMC1)
ENST00000688667.1:c.2588-29C>A (EMC1)	ENSP00000509418.1:n.2588-29C>A
ENST00000688918.1:n.1151C>A (EMC1)
ENST00000690451.1:n.4045C>A (EMC1)
ENST00000690732.1:c.2435C>A (EMC1)	ENSP00000510581.1:p.Pro812His
ENST00000690823.1:c.2591C>A (EMC1)	ENSP00000509286.1:p.Pro864His
ENST00000691945.1:n.1273C>A (EMC1)
ENST00000692207.1:c.*2361C>A (EMC1)	ENSP00000509071.1:n.*2361C>A
ENST00000693007.1:n.2006C>A (EMC1)
ENST00000477853.6:c.2597C>A (EMC1) MANE Select	ENSP00000420608.1:p.Pro866His
ENST00000494770.6:n.574C>A (EMC1)
ENST00000375199.7:c.2594C>A (EMC1)	ENSP00000364345.3:p.Pro865His
ENST00000375208.7:c.2531C>A (EMC1)	ENSP00000364354.3:p.Pro844His
ENST00000461353.1:n.367C>A (EMC1)
ENST00000462505.1:n.394C>A (EMC1)
ENST00000477853.5:c.2597C>A (EMC1)	ENSP00000420608.1:p.Pro866His
ENST00000480380.1:n.1078C>A (EMC1)
ENST00000486238.1:c.148C>A (EMC1)
ENST00000486405.1:c.323-29C>A (EMC1)	ENSP00000419345.1:n.323-29C>A
ENST00000494770.5:n.574C>A (EMC1)
ENST00000496654.1:n.64-29C>A (EMC1)
NM_001271427.1:c.2594C>A (EMC1)	NP_001258356.1:p.Pro865His
NM_001271428.1:c.2594C>A (EMC1)	NP_001258357.1:p.Pro865His
NM_001271429.1:c.2531C>A (EMC1)	NP_001258358.1:p.Pro844His
NM_015047.2:c.2597C>A (EMC1)	NP_055862.1:p.Pro866His
XM_005245787.1:c.2606C>A (EMC1)	XP_005245844.1:p.Pro869His
XM_005245788.1:c.2603C>A (EMC1)	XP_005245845.1:p.Pro868His
XR_241220.2:n.195+10280G>T (EMC1-AS1)
NR_135114.1:n.174+10280G>T (EMC1-AS1)
NR_135115.1:n.175-9008G>T (EMC1-AS1)
XM_005245787.2:c.2606C>A (EMC1)	XP_005245844.1:p.Pro869His
XM_005245788.2:c.2603C>A (EMC1)	XP_005245845.1:p.Pro868His
NM_015047.3:c.2597C>A (EMC1) MANE Select	NP_055862.1:p.Pro866His
NM_001271427.2:c.2594C>A (EMC1)	NP_001258356.1:p.Pro865His
NM_001271428.2:c.2594C>A (EMC1)	NP_001258357.1:p.Pro865His
NM_001271429.2:c.2531C>A (EMC1)	NP_001258358.1:p.Pro844His
NM_001375820.1:c.2606C>A (EMC1)	NP_001362749.1:p.Pro869His
NM_001375821.1:c.2603C>A (EMC1)	NP_001362750.1:p.Pro868His