Canonical Allele Identifier: CA1240109585

Gene: EMILIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085005C= , CM000664.2:g.27085005C=	GRCh38
NC_000002.11:g.27307873C= , CM000664.1:g.27307873C=	GRCh37
NC_000002.10:g.27161377C=	NCBI36
NG_012199.1:g.3263C=
NG_046849.1:g.11439C=
NG_012199.2:g.3263C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2572C= MANE Select	ENSP00000369677.4:p.Gln858=
ENST00000380320.8:c.2572C=	ENSP00000369677.4:p.Gln858=
ENST00000433140.1:c.564C=
NM_007046.3:c.2572C=	NP_008977.1:p.Gln858=
XM_006711928.2:c.2572C=	XP_006711991.1:p.Gln858=
NM_007046.4:c.2572C= MANE Select	NP_008977.1:p.Gln858=