Canonical Allele Identifier: CA383683070

Gene: EMG1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.259A>C MANE Select	ENSP00000470560.1:p.Ile87Leu
ENST00000261406.7:c.241A>C	ENSP00000476966.2:p.Ile81Leu
ENST00000539196.2:c.122A>C
ENST00000599672.5:c.259A>C	ENSP00000470560.1:p.Ile87Leu
ENST00000607161.5:c.262A>C	ENSP00000480420.1:p.Ile88Leu
ENST00000611981.1:n.270A>C
ENST00000620255.1:n.248A>C
NM_006331.7:c.259A>C	NP_006322.4:p.Ile87Leu
XM_011520907.1:c.259A>C	XP_011519209.1:p.Ile87Leu
NM_001320049.1:c.259A>C	NP_001306978.1:p.Ile87Leu
NR_135131.1:n.402A>C
NM_006331.8:c.259A>C MANE Select	NP_006322.4:p.Ile87Leu
NM_001320049.2:c.259A>C	NP_001306978.1:p.Ile87Leu
NR_135131.2:n.270A>C