Canonical Allele Identifier: CA346156161
Gene: EMILIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27308087T>G (hg19) chr2:g.27085219T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085219T>G , CM000664.2:g.27085219T>G GRCh38
NC_000002.11:g.27308087T>G , CM000664.1:g.27308087T>G GRCh37
NC_000002.10:g.27161591T>G NCBI36
NG_012199.1:g.3477T>G
NG_046849.1:g.11653T>G
NG_012199.2:g.3477T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2635T>G MANE Select ENSP00000369677.4:p.Leu879Val
ENST00000380320.8:c.2635T>G ENSP00000369677.4:p.Leu879Val
ENST00000433140.1:c.627T>G
NM_007046.3:c.2635T>G NP_008977.1:p.Leu879Val
XM_006711928.2:c.2575+211T>G XP_006711991.1:n.2575+211T>G
NM_007046.4:c.2635T>G MANE Select NP_008977.1:p.Leu879Val
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