Canonical Allele Identifier: CA383683116

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083595C>T (hg19) ; chr12:g.6974433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974433C>T , CM000674.2:g.6974433C>T	GRCh38
NC_000012.11:g.7083595C>T , CM000674.1:g.7083595C>T	GRCh37
NC_000012.10:g.6953856C>T	NCBI36
NG_021408.1:g.8653C>T
NG_021408.2:g.8653C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.263C>T MANE Select	ENSP00000470560.1:p.Thr88Ile
ENST00000261406.7:c.245C>T	ENSP00000476966.2:p.Thr82Ile
ENST00000539196.2:c.126C>T
ENST00000599672.5:c.263C>T	ENSP00000470560.1:p.Thr88Ile
ENST00000607161.5:c.266C>T	ENSP00000480420.1:p.Thr89Ile
ENST00000611981.1:n.274C>T
ENST00000620255.1:n.252C>T
NM_006331.7:c.263C>T	NP_006322.4:p.Thr88Ile
XM_011520907.1:c.263C>T	XP_011519209.1:p.Thr88Ile
NM_001320049.1:c.263C>T	NP_001306978.1:p.Thr88Ile
NR_135131.1:n.406C>T
NM_006331.8:c.263C>T MANE Select	NP_006322.4:p.Thr88Ile
NM_001320049.2:c.263C>T	NP_001306978.1:p.Thr88Ile
NR_135131.2:n.274C>T