Canonical Allele Identifier: CA356982

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150511475C>T , CM000663.2:g.150511475C>T	GRCh38
NC_000001.10:g.150483951C>T , CM000663.1:g.150483951C>T	GRCh37
NC_000001.9:g.148750575C>T	NCBI36
NG_012062.1:g.8465C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.727C>T MANE Select	NP_004416.2:p.Arg243Ter
ENST00000369047.9:c.727C>T MANE Select	ENSP00000358043.4:p.Arg243Ter
NM_001202858.1:c.808C>T	NP_001189787.1:p.Arg270Ter
NM_001202858.2:c.808C>T	NP_001189787.1:p.Arg270Ter
NM_004425.3:c.727C>T	NP_004416.2:p.Arg243Ter
NM_022664.2:c.708+277C>T	NP_073155.2:n.708+277C>T
NM_022664.3:c.708+277C>T	NP_073155.2:n.708+277C>T
ENST00000346569.6:c.708+277C>T	ENSP00000271630.6:n.708+277C>T
ENST00000369047.8:c.727C>T	ENSP00000358043.4:p.Arg243Ter
ENST00000369049.8:c.808C>T	ENSP00000358045.4:p.Arg270Ter
ENST00000470432.5:n.2084C>T