Canonical Allele Identifier: CA1568995
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs746958061
gnomAD v2: 2-27308094-G-A
gnomAD v4: 2-27085226-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2642G>A MANE Select ENSP00000369677.4:p.Arg881Gln
ENST00000380320.8:c.2642G>A ENSP00000369677.4:p.Arg881Gln
ENST00000433140.1:c.634G>A
NM_007046.3:c.2642G>A NP_008977.1:p.Arg881Gln
XM_006711928.2:c.2575+218G>A XP_006711991.1:n.2575+218G>A
NM_007046.4:c.2642G>A MANE Select NP_008977.1:p.Arg881Gln