Canonical Allele Identifier: CA383682489

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974349-C-T
• MyVariant Identifiers: chr12:g.7083511C>T (hg19) ; chr12:g.6974349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974349C>T , CM000674.2:g.6974349C>T	GRCh38
NC_000012.11:g.7083511C>T , CM000674.1:g.7083511C>T	GRCh37
NC_000012.10:g.6953772C>T	NCBI36
NG_021408.1:g.8569C>T
NG_021408.2:g.8569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.179C>T MANE Select	ENSP00000470560.1:p.Thr60Ile
ENST00000261406.7:c.161C>T	ENSP00000476966.2:p.Thr54Ile
ENST00000539196.2:c.42C>T
ENST00000599672.5:c.179C>T	ENSP00000470560.1:p.Thr60Ile
ENST00000607161.5:c.182C>T	ENSP00000480420.1:p.Thr61Ile
ENST00000611981.1:n.190C>T
ENST00000620255.1:n.168C>T
NM_006331.7:c.179C>T	NP_006322.4:p.Thr60Ile
XM_011520907.1:c.179C>T	XP_011519209.1:p.Thr60Ile
NM_001320049.1:c.179C>T	NP_001306978.1:p.Thr60Ile
NR_135131.1:n.322C>T
NM_006331.8:c.179C>T MANE Select	NP_006322.4:p.Thr60Ile
NM_001320049.2:c.179C>T	NP_001306978.1:p.Thr60Ile
NR_135131.2:n.190C>T