Canonical Allele Identifier: CA346156249
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085246C>A , CM000664.2:g.27085246C>A GRCh38
NC_000002.11:g.27308114C>A , CM000664.1:g.27308114C>A GRCh37
NC_000002.10:g.27161618C>A NCBI36
NG_012199.1:g.3504C>A
NG_046849.1:g.11680C>A
NG_012199.2:g.3504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2662C>A MANE Select ENSP00000369677.4:p.Pro888Thr
ENST00000380320.8:c.2662C>A ENSP00000369677.4:p.Pro888Thr
ENST00000433140.1:c.654C>A
NM_007046.3:c.2662C>A NP_008977.1:p.Pro888Thr
XM_006711928.2:c.2575+238C>A XP_006711991.1:n.2575+238C>A
NM_007046.4:c.2662C>A MANE Select NP_008977.1:p.Pro888Thr