Canonical Allele Identifier: CA342332965

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510970G>A , CM000663.2:g.150510970G>A	GRCh38
NC_000001.10:g.150483446G>A , CM000663.1:g.150483446G>A	GRCh37
NC_000001.9:g.148750070G>A	NCBI36
NG_012062.1:g.7960G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.480G>A MANE Select	NP_004416.2:p.Trp160Ter
ENST00000369047.9:c.480G>A MANE Select	ENSP00000358043.4:p.Trp160Ter
NM_001202858.1:c.561G>A	NP_001189787.1:p.Trp187Ter
NM_001202858.2:c.561G>A	NP_001189787.1:p.Trp187Ter
NM_004425.3:c.480G>A	NP_004416.2:p.Trp160Ter
NM_022664.2:c.480G>A	NP_073155.2:p.Trp160Ter
NM_022664.3:c.480G>A	NP_073155.2:p.Trp160Ter
ENST00000346569.6:c.480G>A	ENSP00000271630.6:p.Trp160Ter
ENST00000369047.8:c.480G>A	ENSP00000358043.4:p.Trp160Ter
ENST00000369049.8:c.561G>A	ENSP00000358045.4:p.Trp187Ter
ENST00000470432.5:n.1579G>A
ENST00000498579.5:n.767G>A