Canonical Allele Identifier: CA118819
Gene: ECM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.150510989T>A
GRCh37 chr1:g.150483465T>A
Revel Score:
ENST00000369049 0.840
ENST00000369047 (MANE Select) 0.840
ENST00000346569 0.840
gnomAD v2:
1:150483465 T / A
gnomAD v3:
1:150510989 T / A
gnomAD v4:
chr1-150510989-T-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV000007902
ClinVar Variation:
7476
dbSNP:
121909116
JSON-LD

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
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