Canonical Allele Identifier: CA2574053550

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510803A>T , CM000663.2:g.150510803A>T	GRCh38
NC_000001.10:g.150483279A>T , CM000663.1:g.150483279A>T	GRCh37
NC_000001.9:g.148749903A>T	NCBI36
NG_012062.1:g.7793A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-73A>T MANE Select	ENSP00000358043.4:n.386-73A>T
ENST00000346569.6:c.386-73A>T	ENSP00000271630.6:n.386-73A>T
ENST00000369047.8:c.386-73A>T	ENSP00000358043.4:n.386-73A>T
ENST00000369049.8:c.467-73A>T	ENSP00000358045.4:n.467-73A>T
ENST00000470432.5:n.1412A>T
ENST00000498579.5:n.673-73A>T
NM_001202858.1:c.467-73A>T	NP_001189787.1:n.467-73A>T
NM_004425.3:c.386-73A>T	NP_004416.2:n.386-73A>T
NM_022664.2:c.386-73A>T	NP_073155.2:n.386-73A>T
XR_922130.1:n.67T>A
NM_004425.4:c.386-73A>T MANE Select	NP_004416.2:n.386-73A>T
NM_001202858.2:c.467-73A>T	NP_001189787.1:n.467-73A>T
NM_022664.3:c.386-73A>T	NP_073155.2:n.386-73A>T