Canonical Allele Identifier: CA1240109662
Gene: EMILIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085169G= , CM000664.2:g.27085169G= GRCh38
NC_000002.11:g.27308037G= , CM000664.1:g.27308037G= GRCh37
NC_000002.10:g.27161541G= NCBI36
NG_012199.1:g.3427G=
NG_046849.1:g.11603G=
NG_012199.2:g.3427G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2585G= MANE Select ENSP00000369677.4:p.Gly862=
ENST00000380320.8:c.2585G= ENSP00000369677.4:p.Gly862=
ENST00000433140.1:c.577G=
NM_007046.3:c.2585G= NP_008977.1:p.Gly862=
XM_006711928.2:c.2575+161G= XP_006711991.1:n.2575+161G=
NM_007046.4:c.2585G= MANE Select NP_008977.1:p.Gly862=