Canonical Allele Identifier: CA346156180

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27085223-C-T
• MyVariant Identifiers: chr2:g.27308091C>T (hg19) ; chr2:g.27085223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085223C>T , CM000664.2:g.27085223C>T	GRCh38
NC_000002.11:g.27308091C>T , CM000664.1:g.27308091C>T	GRCh37
NC_000002.10:g.27161595C>T	NCBI36
NG_012199.1:g.3481C>T
NG_046849.1:g.11657C>T
NG_012199.2:g.3481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2639C>T MANE Select	ENSP00000369677.4:p.Pro880Leu
ENST00000380320.8:c.2639C>T	ENSP00000369677.4:p.Pro880Leu
ENST00000433140.1:c.631C>T
NM_007046.3:c.2639C>T	NP_008977.1:p.Pro880Leu
XM_006711928.2:c.2575+215C>T	XP_006711991.1:n.2575+215C>T
NM_007046.4:c.2639C>T MANE Select	NP_008977.1:p.Pro880Leu