Canonical Allele Identifier: CA1240109695

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085238G= , CM000664.2:g.27085238G=	GRCh38
NC_000002.11:g.27308106G= , CM000664.1:g.27308106G=	GRCh37
NC_000002.10:g.27161610G=	NCBI36
NG_012199.1:g.3496G=
NG_046849.1:g.11672G=
NG_012199.2:g.3496G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2654G= MANE Select	ENSP00000369677.4:p.Gly885=
ENST00000380320.8:c.2654G=	ENSP00000369677.4:p.Gly885=
ENST00000433140.1:c.646G=
NM_007046.3:c.2654G=	NP_008977.1:p.Gly885=
XM_006711928.2:c.2575+230G=	XP_006711991.1:n.2575+230G=
NM_007046.4:c.2654G= MANE Select	NP_008977.1:p.Gly885=