Canonical Allele Identifier: CA1240109691

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085233A= , CM000664.2:g.27085233A=	GRCh38
NC_000002.11:g.27308101A= , CM000664.1:g.27308101A=	GRCh37
NC_000002.10:g.27161605A=	NCBI36
NG_012199.1:g.3491A=
NG_046849.1:g.11667A=
NG_012199.2:g.3491A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2649A= MANE Select	ENSP00000369677.4:p.Glu883=
ENST00000380320.8:c.2649A=	ENSP00000369677.4:p.Glu883=
ENST00000433140.1:c.641A=
NM_007046.3:c.2649A=	NP_008977.1:p.Glu883=
XM_006711928.2:c.2575+225A=	XP_006711991.1:n.2575+225A=
NM_007046.4:c.2649A= MANE Select	NP_008977.1:p.Glu883=