Canonical Allele Identifier: CA383683167

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083600C>T (hg19) ; chr12:g.6974438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974438C>T , CM000674.2:g.6974438C>T	GRCh38
NC_000012.11:g.7083600C>T , CM000674.1:g.7083600C>T	GRCh37
NC_000012.10:g.6953861C>T	NCBI36
NG_021408.1:g.8658C>T
NG_021408.2:g.8658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.268C>T MANE Select	ENSP00000470560.1:p.Gln90Ter
ENST00000261406.7:c.250C>T	ENSP00000476966.2:p.Gln84Ter
ENST00000539196.2:c.131C>T
ENST00000599672.5:c.268C>T	ENSP00000470560.1:p.Gln90Ter
ENST00000607161.5:c.271C>T	ENSP00000480420.1:p.Gln91Ter
ENST00000611981.1:n.279C>T
ENST00000620255.1:n.257C>T
NM_006331.7:c.268C>T	NP_006322.4:p.Gln90Ter
XM_011520907.1:c.268C>T	XP_011519209.1:p.Gln90Ter
NM_001320049.1:c.268C>T	NP_001306978.1:p.Gln90Ter
NR_135131.1:n.411C>T
NM_006331.8:c.268C>T MANE Select	NP_006322.4:p.Gln90Ter
NM_001320049.2:c.268C>T	NP_001306978.1:p.Gln90Ter
NR_135131.2:n.279C>T