Canonical Allele Identifier: CA2746077531

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510825T>A , CM000663.2:g.150510825T>A	GRCh38
NC_000001.10:g.150483301T>A , CM000663.1:g.150483301T>A	GRCh37
NC_000001.9:g.148749925T>A	NCBI36
NG_012062.1:g.7815T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-51T>A MANE Select	ENSP00000358043.4:n.386-51T>A
ENST00000346569.6:c.386-51T>A	ENSP00000271630.6:n.386-51T>A
ENST00000369047.8:c.386-51T>A	ENSP00000358043.4:n.386-51T>A
ENST00000369049.8:c.467-51T>A	ENSP00000358045.4:n.467-51T>A
ENST00000470432.5:n.1434T>A
ENST00000498579.5:n.673-51T>A
NM_001202858.1:c.467-51T>A	NP_001189787.1:n.467-51T>A
NM_004425.3:c.386-51T>A	NP_004416.2:n.386-51T>A
NM_022664.2:c.386-51T>A	NP_073155.2:n.386-51T>A
XR_922130.1:n.45A>T
NM_004425.4:c.386-51T>A MANE Select	NP_004416.2:n.386-51T>A
NM_001202858.2:c.467-51T>A	NP_001189787.1:n.467-51T>A
NM_022664.3:c.386-51T>A	NP_073155.2:n.386-51T>A