Canonical Allele Identifier: CA1240109688

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085226G= , CM000664.2:g.27085226G=	GRCh38
NC_000002.11:g.27308094G= , CM000664.1:g.27308094G=	GRCh37
NC_000002.10:g.27161598G=	NCBI36
NG_012199.1:g.3484G=
NG_046849.1:g.11660G=
NG_012199.2:g.3484G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2642G= MANE Select	ENSP00000369677.4:p.Arg881=
ENST00000380320.8:c.2642G=	ENSP00000369677.4:p.Arg881=
ENST00000433140.1:c.634G=
NM_007046.3:c.2642G=	NP_008977.1:p.Arg881=
XM_006711928.2:c.2575+218G=	XP_006711991.1:n.2575+218G=
NM_007046.4:c.2642G= MANE Select	NP_008977.1:p.Arg881=