Canonical Allele Identifier: CA1569001
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs759674332
ExAC: 2:27308113 C / T
gnomAD v2: 2-27308113-C-T
gnomAD v4: 2-27085245-C-T
MyVariant Identifiers: chr2:g.27308113C>T (hg19) chr2:g.27085245C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085245C>T , CM000664.2:g.27085245C>T GRCh38
NC_000002.11:g.27308113C>T , CM000664.1:g.27308113C>T GRCh37
NC_000002.10:g.27161617C>T NCBI36
NG_012199.1:g.3503C>T
NG_046849.1:g.11679C>T
NG_012199.2:g.3503C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2661C>T MANE Select ENSP00000369677.4:p.Val887=
ENST00000380320.8:c.2661C>T ENSP00000369677.4:p.Val887=
ENST00000433140.1:c.653C>T
NM_007046.3:c.2661C>T NP_008977.1:p.Val887=
XM_006711928.2:c.2575+237C>T XP_006711991.1:n.2575+237C>T
NM_007046.4:c.2661C>T MANE Select NP_008977.1:p.Val887=
Search 100 bp 5'
Search 100 bp 3'