Canonical Allele Identifier: CA1077554

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150511540G>A , CM000663.2:g.150511540G>A	GRCh38
NC_000001.10:g.150484016G>A , CM000663.1:g.150484016G>A	GRCh37
NC_000001.9:g.148750640G>A	NCBI36
NG_012062.1:g.8530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.792G>A MANE Select	NP_004416.2:p.Glu264=
ENST00000369047.9:c.792G>A MANE Select	ENSP00000358043.4:p.Glu264=
NM_001202858.1:c.873G>A	NP_001189787.1:p.Glu291=
NM_001202858.2:c.873G>A	NP_001189787.1:p.Glu291=
NM_004425.3:c.792G>A	NP_004416.2:p.Glu264=
NM_022664.2:c.708+342G>A	NP_073155.2:n.708+342G>A
NM_022664.3:c.708+342G>A	NP_073155.2:n.708+342G>A
ENST00000346569.6:c.708+342G>A	ENSP00000271630.6:n.708+342G>A
ENST00000369047.8:c.792G>A	ENSP00000358043.4:p.Glu264=
ENST00000369049.8:c.873G>A	ENSP00000358045.4:p.Glu291=
ENST00000470432.5:n.2149G>A