Canonical Allele Identifier: CA346156187

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27085226-G-T
• MyVariant Identifiers: chr2:g.27308094G>T (hg19) ; chr2:g.27085226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085226G>T , CM000664.2:g.27085226G>T	GRCh38
NC_000002.11:g.27308094G>T , CM000664.1:g.27308094G>T	GRCh37
NC_000002.10:g.27161598G>T	NCBI36
NG_012199.1:g.3484G>T
NG_046849.1:g.11660G>T
NG_012199.2:g.3484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2642G>T MANE Select	ENSP00000369677.4:p.Arg881Leu
ENST00000380320.8:c.2642G>T	ENSP00000369677.4:p.Arg881Leu
ENST00000433140.1:c.634G>T
NM_007046.3:c.2642G>T	NP_008977.1:p.Arg881Leu
XM_006711928.2:c.2575+218G>T	XP_006711991.1:n.2575+218G>T
NM_007046.4:c.2642G>T MANE Select	NP_008977.1:p.Arg881Leu