Canonical Allele Identifier: CA346156279

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308122C>A (hg19) ; chr2:g.27085254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085254C>A , CM000664.2:g.27085254C>A	GRCh38
NC_000002.11:g.27308122C>A , CM000664.1:g.27308122C>A	GRCh37
NC_000002.10:g.27161626C>A	NCBI36
NG_012199.1:g.3512C>A
NG_046849.1:g.11688C>A
NG_012199.2:g.3512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2670C>A MANE Select	ENSP00000369677.4:p.Asp890Glu
ENST00000380320.8:c.2670C>A	ENSP00000369677.4:p.Asp890Glu
ENST00000433140.1:c.662C>A
NM_007046.3:c.2670C>A	NP_008977.1:p.Asp890Glu
XM_006711928.2:c.2575+246C>A	XP_006711991.1:n.2575+246C>A
NM_007046.4:c.2670C>A MANE Select	NP_008977.1:p.Asp890Glu