Canonical Allele Identifier: CA351001106

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484510C>A , CM000664.2:g.232484510C>A	GRCh38
NC_000002.11:g.233349220C>A , CM000664.1:g.233349220C>A	GRCh37
NC_000002.10:g.233057464C>A	NCBI36
NG_034065.1:g.8350G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004826.4:c.1146G>T MANE Select	NP_004817.2:p.Met382Ile
ENST00000304546.6:c.1146G>T MANE Select	ENSP00000302051.1:p.Met382Ile
NM_001290787.1:c.1146G>T	NP_001277716.1:p.Met382Ile
NM_001290787.2:c.1146G>T	NP_001277716.1:p.Met382Ile
NM_004826.3:c.1146G>T	NP_004817.2:p.Met382Ile
ENST00000304546.5:c.1146G>T	ENSP00000302051.1:p.Met382Ile
ENST00000409941.1:c.1146G>T	ENSP00000386333.1:p.Met382Ile
ENST00000482346.1:n.1457G>T