Canonical Allele Identifier: CA383683074

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083591A>T (hg19) ; chr12:g.6974429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974429A>T , CM000674.2:g.6974429A>T	GRCh38
NC_000012.11:g.7083591A>T , CM000674.1:g.7083591A>T	GRCh37
NC_000012.10:g.6953852A>T	NCBI36
NG_021408.1:g.8649A>T
NG_021408.2:g.8649A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.259A>T MANE Select	ENSP00000470560.1:p.Ile87Phe
ENST00000261406.7:c.241A>T	ENSP00000476966.2:p.Ile81Phe
ENST00000539196.2:c.122A>T
ENST00000599672.5:c.259A>T	ENSP00000470560.1:p.Ile87Phe
ENST00000607161.5:c.262A>T	ENSP00000480420.1:p.Ile88Phe
ENST00000611981.1:n.270A>T
ENST00000620255.1:n.248A>T
NM_006331.7:c.259A>T	NP_006322.4:p.Ile87Phe
XM_011520907.1:c.259A>T	XP_011519209.1:p.Ile87Phe
NM_001320049.1:c.259A>T	NP_001306978.1:p.Ile87Phe
NR_135131.1:n.402A>T
NM_006331.8:c.259A>T MANE Select	NP_006322.4:p.Ile87Phe
NM_001320049.2:c.259A>T	NP_001306978.1:p.Ile87Phe
NR_135131.2:n.270A>T