Canonical Allele Identifier: CA2570270343

Gene: ECM1

Linked Data

• gnomAD v4: 1-150510829-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510829T>G , CM000663.2:g.150510829T>G	GRCh38
NC_000001.10:g.150483305T>G , CM000663.1:g.150483305T>G	GRCh37
NC_000001.9:g.148749929T>G	NCBI36
NG_012062.1:g.7819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-47T>G MANE Select	ENSP00000358043.4:n.386-47T>G
ENST00000346569.6:c.386-47T>G	ENSP00000271630.6:n.386-47T>G
ENST00000369047.8:c.386-47T>G	ENSP00000358043.4:n.386-47T>G
ENST00000369049.8:c.467-47T>G	ENSP00000358045.4:n.467-47T>G
ENST00000470432.5:n.1438T>G
ENST00000498579.5:n.673-47T>G
NM_001202858.1:c.467-47T>G	NP_001189787.1:n.467-47T>G
NM_004425.3:c.386-47T>G	NP_004416.2:n.386-47T>G
NM_022664.2:c.386-47T>G	NP_073155.2:n.386-47T>G
XR_922130.1:n.41A>C
NM_004425.4:c.386-47T>G MANE Select	NP_004416.2:n.386-47T>G
NM_001202858.2:c.467-47T>G	NP_001189787.1:n.467-47T>G
NM_022664.3:c.386-47T>G	NP_073155.2:n.386-47T>G