Canonical Allele Identifier: CA383682748

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083549T>A (hg19) ; chr12:g.6974387T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974387T>A , CM000674.2:g.6974387T>A	GRCh38
NC_000012.11:g.7083549T>A , CM000674.1:g.7083549T>A	GRCh37
NC_000012.10:g.6953810T>A	NCBI36
NG_021408.1:g.8607T>A
NG_021408.2:g.8607T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.217T>A MANE Select	ENSP00000470560.1:p.Leu73Met
ENST00000261406.7:c.199T>A	ENSP00000476966.2:p.Leu67Met
ENST00000539196.2:c.80T>A
ENST00000599672.5:c.217T>A	ENSP00000470560.1:p.Leu73Met
ENST00000607161.5:c.220T>A	ENSP00000480420.1:p.Leu74Met
ENST00000611981.1:n.228T>A
ENST00000620255.1:n.206T>A
NM_006331.7:c.217T>A	NP_006322.4:p.Leu73Met
XM_011520907.1:c.217T>A	XP_011519209.1:p.Leu73Met
NM_001320049.1:c.217T>A	NP_001306978.1:p.Leu73Met
NR_135131.1:n.360T>A
NM_006331.8:c.217T>A MANE Select	NP_006322.4:p.Leu73Met
NM_001320049.2:c.217T>A	NP_001306978.1:p.Leu73Met
NR_135131.2:n.228T>A