Canonical Allele Identifier: CA383682759

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083550T>G (hg19) ; chr12:g.6974388T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974388T>G , CM000674.2:g.6974388T>G	GRCh38
NC_000012.11:g.7083550T>G , CM000674.1:g.7083550T>G	GRCh37
NC_000012.10:g.6953811T>G	NCBI36
NG_021408.1:g.8608T>G
NG_021408.2:g.8608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.218T>G MANE Select	ENSP00000470560.1:p.Leu73Trp
ENST00000261406.7:c.200T>G	ENSP00000476966.2:p.Leu67Trp
ENST00000539196.2:c.81T>G
ENST00000599672.5:c.218T>G	ENSP00000470560.1:p.Leu73Trp
ENST00000607161.5:c.221T>G	ENSP00000480420.1:p.Leu74Trp
ENST00000611981.1:n.229T>G
ENST00000620255.1:n.207T>G
NM_006331.7:c.218T>G	NP_006322.4:p.Leu73Trp
XM_011520907.1:c.218T>G	XP_011519209.1:p.Leu73Trp
NM_001320049.1:c.218T>G	NP_001306978.1:p.Leu73Trp
NR_135131.1:n.361T>G
NM_006331.8:c.218T>G MANE Select	NP_006322.4:p.Leu73Trp
NM_001320049.2:c.218T>G	NP_001306978.1:p.Leu73Trp
NR_135131.2:n.229T>G