Canonical Allele Identifier: CA383683078

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083592T>G (hg19) ; chr12:g.6974430T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974430T>G , CM000674.2:g.6974430T>G	GRCh38
NC_000012.11:g.7083592T>G , CM000674.1:g.7083592T>G	GRCh37
NC_000012.10:g.6953853T>G	NCBI36
NG_021408.1:g.8650T>G
NG_021408.2:g.8650T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.260T>G MANE Select	ENSP00000470560.1:p.Ile87Ser
ENST00000261406.7:c.242T>G	ENSP00000476966.2:p.Ile81Ser
ENST00000539196.2:c.123T>G
ENST00000599672.5:c.260T>G	ENSP00000470560.1:p.Ile87Ser
ENST00000607161.5:c.263T>G	ENSP00000480420.1:p.Ile88Ser
ENST00000611981.1:n.271T>G
ENST00000620255.1:n.249T>G
NM_006331.7:c.260T>G	NP_006322.4:p.Ile87Ser
XM_011520907.1:c.260T>G	XP_011519209.1:p.Ile87Ser
NM_001320049.1:c.260T>G	NP_001306978.1:p.Ile87Ser
NR_135131.1:n.403T>G
NM_006331.8:c.260T>G MANE Select	NP_006322.4:p.Ile87Ser
NM_001320049.2:c.260T>G	NP_001306978.1:p.Ile87Ser
NR_135131.2:n.271T>G