Canonical Allele Identifier: CA1240109587

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085010T= , CM000664.2:g.27085010T=	GRCh38
NC_000002.11:g.27307878T= , CM000664.1:g.27307878T=	GRCh37
NC_000002.10:g.27161382T=	NCBI36
NG_012199.1:g.3268T=
NG_046849.1:g.11444T=
NG_012199.2:g.3268T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2575+2T= MANE Select	ENSP00000369677.4:n.2575+2T=
ENST00000380320.8:c.2575+2T=	ENSP00000369677.4:n.2575+2T=
ENST00000433140.1:c.567+2T=
NM_007046.3:c.2575+2T=	NP_008977.1:n.2575+2T=
XM_006711928.2:c.2575+2T=	XP_006711991.1:n.2575+2T=
NM_007046.4:c.2575+2T= MANE Select	NP_008977.1:n.2575+2T=