Canonical Allele Identifier: CA342332795

Gene: ECM1

Linked Data

• dbSNP Id: rs1670419159
• gnomAD v3: 1-150510897-A-G
• gnomAD v4: 1-150510897-A-G
• MyVariant Identifiers: chr1:g.150483373A>G (hg19) ; chr1:g.150510897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510897A>G , CM000663.2:g.150510897A>G	GRCh38
NC_000001.10:g.150483373A>G , CM000663.1:g.150483373A>G	GRCh37
NC_000001.9:g.148749997A>G	NCBI36
NG_012062.1:g.7887A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369047.9:c.407A>G MANE Select	ENSP00000358043.4:p.Asp136Gly
ENST00000346569.6:c.407A>G	ENSP00000271630.6:p.Asp136Gly
ENST00000369047.8:c.407A>G	ENSP00000358043.4:p.Asp136Gly
ENST00000369049.8:c.488A>G	ENSP00000358045.4:p.Asp163Gly
ENST00000470432.5:n.1506A>G
ENST00000498579.5:n.694A>G
NM_001202858.1:c.488A>G	NP_001189787.1:p.Asp163Gly
NM_004425.3:c.407A>G	NP_004416.2:p.Asp136Gly
NM_022664.2:c.407A>G	NP_073155.2:p.Asp136Gly
NM_004425.4:c.407A>G MANE Select	NP_004416.2:p.Asp136Gly
NM_001202858.2:c.488A>G	NP_001189787.1:p.Asp163Gly
NM_022664.3:c.407A>G	NP_073155.2:p.Asp136Gly