Canonical Allele Identifier: CA2479190357

Gene: ECM1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.407A= MANE Select	ENSP00000358043.4:p.Asp136=
ENST00000346569.6:c.407A=	ENSP00000271630.6:p.Asp136=
ENST00000369047.8:c.407A=	ENSP00000358043.4:p.Asp136=
ENST00000369049.8:c.488A=	ENSP00000358045.4:p.Asp163=
ENST00000470432.5:n.1506A=
ENST00000498579.5:n.694A=
NM_001202858.1:c.488A=	NP_001189787.1:p.Asp163=
NM_004425.3:c.407A=	NP_004416.2:p.Asp136=
NM_022664.2:c.407A=	NP_073155.2:p.Asp136=
NM_004425.4:c.407A= MANE Select	NP_004416.2:p.Asp136=
NM_001202858.2:c.488A=	NP_001189787.1:p.Asp163=
NM_022664.3:c.407A=	NP_073155.2:p.Asp136=