Canonical Allele Identifier: CA118819
Gene: ECM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7476
ClinVar RCV Id: RCV000007902
dbSNP Id: rs121909116

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150510989T>A , CM000663.2:g.150510989T>A GRCh38
NC_000001.10:g.150483465T>A , CM000663.1:g.150483465T>A GRCh37
NC_000001.9:g.148750089T>A NCBI36
NG_012062.1:g.7979T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369047.9:c.499T>A MANE Select ENSP00000358043.4:p.Phe167Ile
ENST00000346569.6:c.499T>A ENSP00000271630.6:p.Phe167Ile
ENST00000369047.8:c.499T>A ENSP00000358043.4:p.Phe167Ile
ENST00000369049.8:c.580T>A ENSP00000358045.4:p.Phe194Ile
ENST00000470432.5:n.1598T>A
ENST00000498579.5:n.786T>A
NM_001202858.1:c.580T>A NP_001189787.1:p.Phe194Ile
NM_004425.3:c.499T>A NP_004416.2:p.Phe167Ile
NM_022664.2:c.499T>A NP_073155.2:p.Phe167Ile
NM_004425.4:c.499T>A MANE Select NP_004416.2:p.Phe167Ile
NM_001202858.2:c.580T>A NP_001189787.1:p.Phe194Ile
NM_022664.3:c.499T>A NP_073155.2:p.Phe167Ile