Canonical Allele Identifier: CA383683336

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083717T>A (hg19) ; chr12:g.6974555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974555T>A , CM000674.2:g.6974555T>A	GRCh38
NC_000012.11:g.7083717T>A , CM000674.1:g.7083717T>A	GRCh37
NC_000012.10:g.6953978T>A	NCBI36
NG_021408.1:g.8775T>A
NG_021408.2:g.8775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.274T>A MANE Select	ENSP00000470560.1:p.Leu92Met
ENST00000261406.7:c.256T>A	ENSP00000476966.2:p.Leu86Met
ENST00000539196.2:c.137T>A
ENST00000599672.5:c.274T>A	ENSP00000470560.1:p.Leu92Met
ENST00000607161.5:c.277T>A	ENSP00000480420.1:p.Leu93Met
ENST00000611981.1:n.285T>A
ENST00000620255.1:n.374T>A
NM_006331.7:c.274T>A	NP_006322.4:p.Leu92Met
XM_011520907.1:c.274T>A	XP_011519209.1:p.Leu92Met
NM_001320049.1:c.274T>A	NP_001306978.1:p.Leu92Met
NR_135131.1:n.417T>A
NM_006331.8:c.274T>A MANE Select	NP_006322.4:p.Leu92Met
NM_001320049.2:c.274T>A	NP_001306978.1:p.Leu92Met
NR_135131.2:n.285T>A