Canonical Allele Identifier: CA1240109655
Gene: EMILIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085153C= , CM000664.2:g.27085153C= GRCh38
NC_000002.11:g.27308021C= , CM000664.1:g.27308021C= GRCh37
NC_000002.10:g.27161525C= NCBI36
NG_012199.1:g.3411C=
NG_046849.1:g.11587C=
NG_012199.2:g.3411C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-7C= MANE Select ENSP00000369677.4:n.2576-7C=
ENST00000380320.8:c.2576-7C= ENSP00000369677.4:n.2576-7C=
ENST00000433140.1:c.568-7C=
NM_007046.3:c.2576-7C= NP_008977.1:n.2576-7C=
XM_006711928.2:c.2575+145C= XP_006711991.1:n.2575+145C=
NM_007046.4:c.2576-7C= MANE Select NP_008977.1:n.2576-7C=
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