Canonical Allele Identifier: CA425382071
Gene: EMILIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27308032G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085164G>A , CM000664.2:g.27085164G>A GRCh38
NC_000002.11:g.27308032G>A , CM000664.1:g.27308032G>A GRCh37
NC_000002.10:g.27161536G>A NCBI36
NG_012199.1:g.3422G>A
NG_046849.1:g.11598G>A
NG_012199.2:g.3422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2580G>A MANE Select ENSP00000369677.4:p.Val860=
ENST00000380320.8:c.2580G>A ENSP00000369677.4:p.Val860=
ENST00000433140.1:c.572G>A
NM_007046.3:c.2580G>A NP_008977.1:p.Val860=
XM_006711928.2:c.2575+156G>A XP_006711991.1:n.2575+156G>A
NM_007046.4:c.2580G>A MANE Select NP_008977.1:p.Val860=