Canonical Allele Identifier: CA118817

Gene: ECM1

Linked Data

• ClinVar Variation Id: 7475
• ClinVar RCV Id: RCV000007901 ; RCV001310535
• dbSNP Id: rs121909115
• ExAC: 1:150482172 C / T
• gnomAD v2: 1-150482172-C-T
• gnomAD v3: 1-150509696-C-T
• gnomAD v4: 1-150509696-C-T
• COSMIC: COSM4021984 ; COSM4021985
• MyVariant Identifiers: chr1:g.150482172C>T (hg19) ; chr1:g.150509696C>T (hg38)
• PubMed: PMID:12603844

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150509696C>T , CM000663.2:g.150509696C>T	GRCh38
NC_000001.10:g.150482172C>T , CM000663.1:g.150482172C>T	GRCh37
NC_000001.9:g.148748796C>T	NCBI36
NG_012062.1:g.6686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.157C>T MANE Select	ENSP00000358043.4:p.Arg53Ter
ENST00000346569.6:c.157C>T	ENSP00000271630.6:p.Arg53Ter
ENST00000369047.8:c.157C>T	ENSP00000358043.4:p.Arg53Ter
ENST00000369049.8:c.157C>T	ENSP00000358045.4:p.Arg53Ter
ENST00000470432.5:n.305C>T
ENST00000490346.1:n.145C>T
ENST00000496744.5:n.273C>T
ENST00000498579.5:n.285C>T
NM_001202858.1:c.157C>T	NP_001189787.1:p.Arg53Ter
NM_004425.3:c.157C>T	NP_004416.2:p.Arg53Ter
NM_022664.2:c.157C>T	NP_073155.2:p.Arg53Ter
XR_922130.1:n.652+522G>A
NM_004425.4:c.157C>T MANE Select	NP_004416.2:p.Arg53Ter
NM_001202858.2:c.157C>T	NP_001189787.1:p.Arg53Ter
NM_022664.3:c.157C>T	NP_073155.2:p.Arg53Ter