Canonical Allele Identifier: CA342332791

Gene: ECM1

Linked Data

• gnomAD v4: 1-150510896-G-A
• COSMIC: COSM3729138 ; COSM3729139
• MyVariant Identifiers: chr1:g.150483372G>A (hg19) ; chr1:g.150510896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510896G>A , CM000663.2:g.150510896G>A	GRCh38
NC_000001.10:g.150483372G>A , CM000663.1:g.150483372G>A	GRCh37
NC_000001.9:g.148749996G>A	NCBI36
NG_012062.1:g.7886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.406G>A MANE Select	ENSP00000358043.4:p.Asp136Asn
ENST00000346569.6:c.406G>A	ENSP00000271630.6:p.Asp136Asn
ENST00000369047.8:c.406G>A	ENSP00000358043.4:p.Asp136Asn
ENST00000369049.8:c.487G>A	ENSP00000358045.4:p.Asp163Asn
ENST00000470432.5:n.1505G>A
ENST00000498579.5:n.693G>A
NM_001202858.1:c.487G>A	NP_001189787.1:p.Asp163Asn
NM_004425.3:c.406G>A	NP_004416.2:p.Asp136Asn
NM_022664.2:c.406G>A	NP_073155.2:p.Asp136Asn
NM_004425.4:c.406G>A MANE Select	NP_004416.2:p.Asp136Asn
NM_001202858.2:c.487G>A	NP_001189787.1:p.Asp163Asn
NM_022664.3:c.406G>A	NP_073155.2:p.Asp136Asn