Canonical Allele Identifier: CA1077437

Gene: ECM1

Linked Data

• dbSNP Id: rs777210669
• ExAC: 1:150483325 C / G
• gnomAD v2: 1-150483325-C-G
• gnomAD v3: 1-150510849-C-G
• gnomAD v4: 1-150510849-C-G
• MyVariant Identifiers: chr1:g.150483325C>G (hg19) ; chr1:g.150510849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510849C>G , CM000663.2:g.150510849C>G	GRCh38
NC_000001.10:g.150483325C>G , CM000663.1:g.150483325C>G	GRCh37
NC_000001.9:g.148749949C>G	NCBI36
NG_012062.1:g.7839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-27C>G MANE Select	ENSP00000358043.4:n.386-27C>G
ENST00000346569.6:c.386-27C>G	ENSP00000271630.6:n.386-27C>G
ENST00000369047.8:c.386-27C>G	ENSP00000358043.4:n.386-27C>G
ENST00000369049.8:c.467-27C>G	ENSP00000358045.4:n.467-27C>G
ENST00000470432.5:n.1458C>G
ENST00000498579.5:n.673-27C>G
NM_001202858.1:c.467-27C>G	NP_001189787.1:n.467-27C>G
NM_004425.3:c.386-27C>G	NP_004416.2:n.386-27C>G
NM_022664.2:c.386-27C>G	NP_073155.2:n.386-27C>G
XR_922130.1:n.21G>C
NM_004425.4:c.386-27C>G MANE Select	NP_004416.2:n.386-27C>G
NM_001202858.2:c.467-27C>G	NP_001189787.1:n.467-27C>G
NM_022664.3:c.386-27C>G	NP_073155.2:n.386-27C>G