Canonical Allele Identifier: CA478521306

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974560-G-C
• MyVariant Identifiers: chr12:g.7083722G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974560G>C , CM000674.2:g.6974560G>C	GRCh38
NC_000012.11:g.7083722G>C , CM000674.1:g.7083722G>C	GRCh37
NC_000012.10:g.6953983G>C	NCBI36
NG_021408.1:g.8780G>C
NG_021408.2:g.8780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.279G>C MANE Select	ENSP00000470560.1:p.Leu93=
ENST00000261406.7:c.261G>C	ENSP00000476966.2:p.Leu87=
ENST00000539196.2:c.142G>C
ENST00000599672.5:c.279G>C	ENSP00000470560.1:p.Leu93=
ENST00000607161.5:c.282G>C	ENSP00000480420.1:p.Leu94=
ENST00000611981.1:n.290G>C
ENST00000620255.1:n.379G>C
NM_006331.7:c.279G>C	NP_006322.4:p.Leu93=
XM_011520907.1:c.279G>C	XP_011519209.1:p.Leu93=
NM_001320049.1:c.279G>C	NP_001306978.1:p.Leu93=
NR_135131.1:n.422G>C
NM_006331.8:c.279G>C MANE Select	NP_006322.4:p.Leu93=
NM_001320049.2:c.279G>C	NP_001306978.1:p.Leu93=
NR_135131.2:n.290G>C