Canonical Allele Identifier: CA346156143
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085214T>C , CM000664.2:g.27085214T>C GRCh38
NC_000002.11:g.27308082T>C , CM000664.1:g.27308082T>C GRCh37
NC_000002.10:g.27161586T>C NCBI36
NG_012199.1:g.3472T>C
NG_046849.1:g.11648T>C
NG_012199.2:g.3472T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2630T>C MANE Select ENSP00000369677.4:p.Leu877Pro
ENST00000380320.8:c.2630T>C ENSP00000369677.4:p.Leu877Pro
ENST00000433140.1:c.622T>C
NM_007046.3:c.2630T>C NP_008977.1:p.Leu877Pro
XM_006711928.2:c.2575+206T>C XP_006711991.1:n.2575+206T>C
NM_007046.4:c.2630T>C MANE Select NP_008977.1:p.Leu877Pro