Canonical Allele Identifier: CA356965

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150511574C>T , CM000663.2:g.150511574C>T	GRCh38
NC_000001.10:g.150484050C>T , CM000663.1:g.150484050C>T	GRCh37
NC_000001.9:g.148750674C>T	NCBI36
NG_012062.1:g.8564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.826C>T MANE Select	NP_004416.2:p.Gln276Ter
ENST00000369047.9:c.826C>T MANE Select	ENSP00000358043.4:p.Gln276Ter
NM_001202858.1:c.907C>T	NP_001189787.1:p.Gln303Ter
NM_001202858.2:c.907C>T	NP_001189787.1:p.Gln303Ter
NM_004425.3:c.826C>T	NP_004416.2:p.Gln276Ter
NM_022664.2:c.708+376C>T	NP_073155.2:n.708+376C>T
NM_022664.3:c.708+376C>T	NP_073155.2:n.708+376C>T
ENST00000346569.6:c.708+376C>T	ENSP00000271630.6:n.708+376C>T
ENST00000369047.8:c.826C>T	ENSP00000358043.4:p.Gln276Ter
ENST00000369049.8:c.907C>T	ENSP00000358045.4:p.Gln303Ter
ENST00000470432.5:n.2183C>T