Canonical Allele Identifier: CA2647810924

Gene: ECM1

Linked Data

• gnomAD v4: 1-150510857-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510857A>T , CM000663.2:g.150510857A>T	GRCh38
NC_000001.10:g.150483333A>T , CM000663.1:g.150483333A>T	GRCh37
NC_000001.9:g.148749957A>T	NCBI36
NG_012062.1:g.7847A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-19A>T MANE Select	ENSP00000358043.4:n.386-19A>T
ENST00000346569.6:c.386-19A>T	ENSP00000271630.6:n.386-19A>T
ENST00000369047.8:c.386-19A>T	ENSP00000358043.4:n.386-19A>T
ENST00000369049.8:c.467-19A>T	ENSP00000358045.4:n.467-19A>T
ENST00000470432.5:n.1466A>T
ENST00000498579.5:n.673-19A>T
NM_001202858.1:c.467-19A>T	NP_001189787.1:n.467-19A>T
NM_004425.3:c.386-19A>T	NP_004416.2:n.386-19A>T
NM_022664.2:c.386-19A>T	NP_073155.2:n.386-19A>T
XR_922130.1:n.13T>A
NM_004425.4:c.386-19A>T MANE Select	NP_004416.2:n.386-19A>T
NM_001202858.2:c.467-19A>T	NP_001189787.1:n.467-19A>T
NM_022664.3:c.386-19A>T	NP_073155.2:n.386-19A>T