Canonical Allele Identifier: CA1568999
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs769456756
ExAC: 2:27308109 C / T
gnomAD v2: 2-27308109-C-T
gnomAD v3: 2-27085241-C-T
gnomAD v4: 2-27085241-C-T
MyVariant Identifiers: chr2:g.27308109C>T (hg19) chr2:g.27085241C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085241C>T , CM000664.2:g.27085241C>T GRCh38
NC_000002.11:g.27308109C>T , CM000664.1:g.27308109C>T GRCh37
NC_000002.10:g.27161613C>T NCBI36
NG_012199.1:g.3499C>T
NG_046849.1:g.11675C>T
NG_012199.2:g.3499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2657C>T MANE Select ENSP00000369677.4:p.Thr886Met
ENST00000380320.8:c.2657C>T ENSP00000369677.4:p.Thr886Met
ENST00000433140.1:c.649C>T
NM_007046.3:c.2657C>T NP_008977.1:p.Thr886Met
XM_006711928.2:c.2575+233C>T XP_006711991.1:n.2575+233C>T
NM_007046.4:c.2657C>T MANE Select NP_008977.1:p.Thr886Met
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