Canonical Allele Identifier: CA383683374

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083721T>C (hg19) ; chr12:g.6974559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974559T>C , CM000674.2:g.6974559T>C	GRCh38
NC_000012.11:g.7083721T>C , CM000674.1:g.7083721T>C	GRCh37
NC_000012.10:g.6953982T>C	NCBI36
NG_021408.1:g.8779T>C
NG_021408.2:g.8779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.278T>C MANE Select	ENSP00000470560.1:p.Leu93Pro
ENST00000261406.7:c.260T>C	ENSP00000476966.2:p.Leu87Pro
ENST00000539196.2:c.141T>C
ENST00000599672.5:c.278T>C	ENSP00000470560.1:p.Leu93Pro
ENST00000607161.5:c.281T>C	ENSP00000480420.1:p.Leu94Pro
ENST00000611981.1:n.289T>C
ENST00000620255.1:n.378T>C
NM_006331.7:c.278T>C	NP_006322.4:p.Leu93Pro
XM_011520907.1:c.278T>C	XP_011519209.1:p.Leu93Pro
NM_001320049.1:c.278T>C	NP_001306978.1:p.Leu93Pro
NR_135131.1:n.421T>C
NM_006331.8:c.278T>C MANE Select	NP_006322.4:p.Leu93Pro
NM_001320049.2:c.278T>C	NP_001306978.1:p.Leu93Pro
NR_135131.2:n.289T>C