Canonical Allele Identifier: CA425382300

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308164A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085296A>C , CM000664.2:g.27085296A>C	GRCh38
NC_000002.11:g.27308164A>C , CM000664.1:g.27308164A>C	GRCh37
NC_000002.10:g.27161668A>C	NCBI36
NG_012199.1:g.3554A>C
NG_046849.1:g.11730A>C
NG_012199.2:g.3554A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2712A>C MANE Select	ENSP00000369677.4:p.Thr904=
ENST00000380320.8:c.2712A>C	ENSP00000369677.4:p.Thr904=
ENST00000433140.1:c.704A>C
NM_007046.3:c.2712A>C	NP_008977.1:p.Thr904=
XM_006711928.2:c.2575+288A>C	XP_006711991.1:n.2575+288A>C
NM_007046.4:c.2712A>C MANE Select	NP_008977.1:p.Thr904=