Canonical Allele Identifier: CA346156140
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085214-T-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2630T>G MANE Select ENSP00000369677.4:p.Leu877Arg
ENST00000380320.8:c.2630T>G ENSP00000369677.4:p.Leu877Arg
ENST00000433140.1:c.622T>G
NM_007046.3:c.2630T>G NP_008977.1:p.Leu877Arg
XM_006711928.2:c.2575+206T>G XP_006711991.1:n.2575+206T>G
NM_007046.4:c.2630T>G MANE Select NP_008977.1:p.Leu877Arg