Canonical Allele Identifier: CA1240109703

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085262T= , CM000664.2:g.27085262T=	GRCh38
NC_000002.11:g.27308130T= , CM000664.1:g.27308130T=	GRCh37
NC_000002.10:g.27161634T=	NCBI36
NG_012199.1:g.3520T=
NG_046849.1:g.11696T=
NG_012199.2:g.3520T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2678T= MANE Select	ENSP00000369677.4:p.Leu893=
ENST00000380320.8:c.2678T=	ENSP00000369677.4:p.Leu893=
ENST00000433140.1:c.670T=
NM_007046.3:c.2678T=	NP_008977.1:p.Leu893=
XM_006711928.2:c.2575+254T=	XP_006711991.1:n.2575+254T=
NM_007046.4:c.2678T= MANE Select	NP_008977.1:p.Leu893=