Canonical Allele Identifier: CA346156255

Gene: EMILIN1

Linked Data

• gnomAD v4: 2-27085247-C-T
• MyVariant Identifiers: chr2:g.27308115C>T (hg19) ; chr2:g.27085247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085247C>T , CM000664.2:g.27085247C>T	GRCh38
NC_000002.11:g.27308115C>T , CM000664.1:g.27308115C>T	GRCh37
NC_000002.10:g.27161619C>T	NCBI36
NG_012199.1:g.3505C>T
NG_046849.1:g.11681C>T
NG_012199.2:g.3505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2663C>T MANE Select	ENSP00000369677.4:p.Pro888Leu
ENST00000380320.8:c.2663C>T	ENSP00000369677.4:p.Pro888Leu
ENST00000433140.1:c.655C>T
NM_007046.3:c.2663C>T	NP_008977.1:p.Pro888Leu
XM_006711928.2:c.2575+239C>T	XP_006711991.1:n.2575+239C>T
NM_007046.4:c.2663C>T MANE Select	NP_008977.1:p.Pro888Leu