Canonical Allele Identifier: CA425382245
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085263-G-C
MyVariant Identifiers: chr2:g.27308131G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085263G>C , CM000664.2:g.27085263G>C GRCh38
NC_000002.11:g.27308131G>C , CM000664.1:g.27308131G>C GRCh37
NC_000002.10:g.27161635G>C NCBI36
NG_012199.1:g.3521G>C
NG_046849.1:g.11697G>C
NG_012199.2:g.3521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2679G>C MANE Select ENSP00000369677.4:p.Leu893=
ENST00000380320.8:c.2679G>C ENSP00000369677.4:p.Leu893=
ENST00000433140.1:c.671G>C
NM_007046.3:c.2679G>C NP_008977.1:p.Leu893=
XM_006711928.2:c.2575+255G>C XP_006711991.1:n.2575+255G>C
NM_007046.4:c.2679G>C MANE Select NP_008977.1:p.Leu893=
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