Canonical Allele Identifier: CA383682722

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083542G>T (hg19) ; chr12:g.6974380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974380G>T , CM000674.2:g.6974380G>T	GRCh38
NC_000012.11:g.7083542G>T , CM000674.1:g.7083542G>T	GRCh37
NC_000012.10:g.6953803G>T	NCBI36
NG_021408.1:g.8600G>T
NG_021408.2:g.8600G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.210G>T MANE Select	ENSP00000470560.1:p.Lys70Asn
ENST00000261406.7:c.192G>T	ENSP00000476966.2:p.Lys64Asn
ENST00000539196.2:c.73G>T
ENST00000599672.5:c.210G>T	ENSP00000470560.1:p.Lys70Asn
ENST00000607161.5:c.213G>T	ENSP00000480420.1:p.Lys71Asn
ENST00000611981.1:n.221G>T
ENST00000620255.1:n.199G>T
NM_006331.7:c.210G>T	NP_006322.4:p.Lys70Asn
XM_011520907.1:c.210G>T	XP_011519209.1:p.Lys70Asn
NM_001320049.1:c.210G>T	NP_001306978.1:p.Lys70Asn
NR_135131.1:n.353G>T
NM_006331.8:c.210G>T MANE Select	NP_006322.4:p.Lys70Asn
NM_001320049.2:c.210G>T	NP_001306978.1:p.Lys70Asn
NR_135131.2:n.221G>T