Canonical Allele Identifier: CA6422666

Gene: EMG1

Linked Data

• ClinVar Variation Id: 1297193
• ClinVar RCV Id: RCV001724897
• dbSNP Id: rs782016727
• ExAC: 12:7083521 A / C
• gnomAD v2: 12-7083521-A-C
• gnomAD v3: 12-6974359-A-C
• gnomAD v4: 12-6974359-A-C
• MyVariant Identifiers: chr12:g.7083521A>C (hg19) ; chr12:g.6974359A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974359A>C , CM000674.2:g.6974359A>C	GRCh38
NC_000012.11:g.7083521A>C , CM000674.1:g.7083521A>C	GRCh37
NC_000012.10:g.6953782A>C	NCBI36
NG_021408.1:g.8579A>C
NG_021408.2:g.8579A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.189A>C MANE Select	ENSP00000470560.1:p.Leu63=
ENST00000261406.7:c.171A>C	ENSP00000476966.2:p.Leu57=
ENST00000539196.2:c.52A>C
ENST00000599672.5:c.189A>C	ENSP00000470560.1:p.Leu63=
ENST00000607161.5:c.192A>C	ENSP00000480420.1:p.Leu64=
ENST00000611981.1:n.200A>C
ENST00000620255.1:n.178A>C
NM_006331.7:c.189A>C	NP_006322.4:p.Leu63=
XM_011520907.1:c.189A>C	XP_011519209.1:p.Leu63=
NM_001320049.1:c.189A>C	NP_001306978.1:p.Leu63=
NR_135131.1:n.332A>C
NM_006331.8:c.189A>C MANE Select	NP_006322.4:p.Leu63=
NM_001320049.2:c.189A>C	NP_001306978.1:p.Leu63=
NR_135131.2:n.200A>C