Canonical Allele Identifier: CA346156441

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308166G>T (hg19) ; chr2:g.27085298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085298G>T , CM000664.2:g.27085298G>T	GRCh38
NC_000002.11:g.27308166G>T , CM000664.1:g.27308166G>T	GRCh37
NC_000002.10:g.27161670G>T	NCBI36
NG_012199.1:g.3556G>T
NG_046849.1:g.11732G>T
NG_012199.2:g.3556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2713+1G>T MANE Select	ENSP00000369677.4:n.2713+1G>T
ENST00000380320.8:c.2713+1G>T	ENSP00000369677.4:n.2713+1G>T
ENST00000433140.1:c.705+1G>T
NM_007046.3:c.2713+1G>T	NP_008977.1:n.2713+1G>T
XM_006711928.2:c.2575+290G>T	XP_006711991.1:n.2575+290G>T
NM_007046.4:c.2713+1G>T MANE Select	NP_008977.1:n.2713+1G>T