Canonical Allele Identifier: CA383682529

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083519C>A (hg19) ; chr12:g.6974357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974357C>A , CM000674.2:g.6974357C>A	GRCh38
NC_000012.11:g.7083519C>A , CM000674.1:g.7083519C>A	GRCh37
NC_000012.10:g.6953780C>A	NCBI36
NG_021408.1:g.8577C>A
NG_021408.2:g.8577C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.187C>A MANE Select	ENSP00000470560.1:p.Leu63Ile
ENST00000261406.7:c.169C>A	ENSP00000476966.2:p.Leu57Ile
ENST00000539196.2:c.50C>A
ENST00000599672.5:c.187C>A	ENSP00000470560.1:p.Leu63Ile
ENST00000607161.5:c.190C>A	ENSP00000480420.1:p.Leu64Ile
ENST00000611981.1:n.198C>A
ENST00000620255.1:n.176C>A
NM_006331.7:c.187C>A	NP_006322.4:p.Leu63Ile
XM_011520907.1:c.187C>A	XP_011519209.1:p.Leu63Ile
NM_001320049.1:c.187C>A	NP_001306978.1:p.Leu63Ile
NR_135131.1:n.330C>A
NM_006331.8:c.187C>A MANE Select	NP_006322.4:p.Leu63Ile
NM_001320049.2:c.187C>A	NP_001306978.1:p.Leu63Ile
NR_135131.2:n.198C>A