Canonical Allele Identifier: CA6422665

Gene: EMG1

Linked Data

• dbSNP Id: rs782793844
• ExAC: 12:7083519 C / G
• gnomAD v2: 12-7083519-C-G
• gnomAD v4: 12-6974357-C-G
• MyVariant Identifiers: chr12:g.7083519C>G (hg19) ; chr12:g.6974357C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.187C>G MANE Select	ENSP00000470560.1:p.Leu63Val
ENST00000261406.7:c.169C>G	ENSP00000476966.2:p.Leu57Val
ENST00000539196.2:c.50C>G
ENST00000599672.5:c.187C>G	ENSP00000470560.1:p.Leu63Val
ENST00000607161.5:c.190C>G	ENSP00000480420.1:p.Leu64Val
ENST00000611981.1:n.198C>G
ENST00000620255.1:n.176C>G
NM_006331.7:c.187C>G	NP_006322.4:p.Leu63Val
XM_011520907.1:c.187C>G	XP_011519209.1:p.Leu63Val
NM_001320049.1:c.187C>G	NP_001306978.1:p.Leu63Val
NR_135131.1:n.330C>G
NM_006331.8:c.187C>G MANE Select	NP_006322.4:p.Leu63Val
NM_001320049.2:c.187C>G	NP_001306978.1:p.Leu63Val
NR_135131.2:n.198C>G