Canonical Allele Identifier: CA425382198

Gene: EMILIN1

Linked Data

• MyVariant Identifiers: chr2:g.27308086T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27085218T>C , CM000664.2:g.27085218T>C	GRCh38
NC_000002.11:g.27308086T>C , CM000664.1:g.27308086T>C	GRCh37
NC_000002.10:g.27161590T>C	NCBI36
NG_012199.1:g.3476T>C
NG_046849.1:g.11652T>C
NG_012199.2:g.3476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380320.9:c.2634T>C MANE Select	ENSP00000369677.4:p.Ser878=
ENST00000380320.8:c.2634T>C	ENSP00000369677.4:p.Ser878=
ENST00000433140.1:c.626T>C
NM_007046.3:c.2634T>C	NP_008977.1:p.Ser878=
XM_006711928.2:c.2575+210T>C	XP_006711991.1:n.2575+210T>C
NM_007046.4:c.2634T>C MANE Select	NP_008977.1:p.Ser878=