Canonical Allele Identifier: CA351001108
Community Standard Title: NM_004826.4(ECEL1):c.1146G>C (p.Met382Ile)
Gene: ECEL1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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