Canonical Allele Identifier: CA342332763

Gene: ECM1

Linked Data

• dbSNP Id: rs1670418632
• gnomAD v4: 1-150510881-C-T
• MyVariant Identifiers: chr1:g.150483357C>T (hg19) ; chr1:g.150510881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510881C>T , CM000663.2:g.150510881C>T	GRCh38
NC_000001.10:g.150483357C>T , CM000663.1:g.150483357C>T	GRCh37
NC_000001.9:g.148749981C>T	NCBI36
NG_012062.1:g.7871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.391C>T MANE Select	ENSP00000358043.4:p.Pro131Ser
ENST00000346569.6:c.391C>T	ENSP00000271630.6:p.Pro131Ser
ENST00000369047.8:c.391C>T	ENSP00000358043.4:p.Pro131Ser
ENST00000369049.8:c.472C>T	ENSP00000358045.4:p.Pro158Ser
ENST00000470432.5:n.1490C>T
ENST00000498579.5:n.678C>T
NM_001202858.1:c.472C>T	NP_001189787.1:p.Pro158Ser
NM_004425.3:c.391C>T	NP_004416.2:p.Pro131Ser
NM_022664.2:c.391C>T	NP_073155.2:p.Pro131Ser
NM_004425.4:c.391C>T MANE Select	NP_004416.2:p.Pro131Ser
NM_001202858.2:c.472C>T	NP_001189787.1:p.Pro158Ser
NM_022664.3:c.391C>T	NP_073155.2:p.Pro131Ser