Canonical Allele Identifier: CA346156197
Gene: EMILIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085229C>T , CM000664.2:g.27085229C>T GRCh38
NC_000002.11:g.27308097C>T , CM000664.1:g.27308097C>T GRCh37
NC_000002.10:g.27161601C>T NCBI36
NG_012199.1:g.3487C>T
NG_046849.1:g.11663C>T
NG_012199.2:g.3487C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2645C>T MANE Select ENSP00000369677.4:p.Ser882Phe
ENST00000380320.8:c.2645C>T ENSP00000369677.4:p.Ser882Phe
ENST00000433140.1:c.637C>T
NM_007046.3:c.2645C>T NP_008977.1:p.Ser882Phe
XM_006711928.2:c.2575+221C>T XP_006711991.1:n.2575+221C>T
NM_007046.4:c.2645C>T MANE Select NP_008977.1:p.Ser882Phe