Canonical Allele Identifier: CA342332782

Gene: ECM1

Linked Data

• dbSNP Id: rs1560265386
• gnomAD v4: 1-150510891-T-G
• MyVariant Identifiers: chr1:g.150483367T>G (hg19) ; chr1:g.150510891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510891T>G , CM000663.2:g.150510891T>G	GRCh38
NC_000001.10:g.150483367T>G , CM000663.1:g.150483367T>G	GRCh37
NC_000001.9:g.148749991T>G	NCBI36
NG_012062.1:g.7881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.401T>G MANE Select	ENSP00000358043.4:p.Phe134Cys
ENST00000346569.6:c.401T>G	ENSP00000271630.6:p.Phe134Cys
ENST00000369047.8:c.401T>G	ENSP00000358043.4:p.Phe134Cys
ENST00000369049.8:c.482T>G	ENSP00000358045.4:p.Phe161Cys
ENST00000470432.5:n.1500T>G
ENST00000498579.5:n.688T>G
NM_001202858.1:c.482T>G	NP_001189787.1:p.Phe161Cys
NM_004425.3:c.401T>G	NP_004416.2:p.Phe134Cys
NM_022664.2:c.401T>G	NP_073155.2:p.Phe134Cys
NM_004425.4:c.401T>G MANE Select	NP_004416.2:p.Phe134Cys
NM_001202858.2:c.482T>G	NP_001189787.1:p.Phe161Cys
NM_022664.3:c.401T>G	NP_073155.2:p.Phe134Cys