Canonical Allele Identifier: CA342334601

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150512514C>T , CM000663.2:g.150512514C>T	GRCh38
NC_000001.10:g.150484990C>T , CM000663.1:g.150484990C>T	GRCh37
NC_000001.9:g.148751614C>T	NCBI36
NG_012062.1:g.9504C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.1246C>T MANE Select	NP_004416.2:p.Arg416Ter
ENST00000369047.9:c.1246C>T MANE Select	ENSP00000358043.4:p.Arg416Ter
NM_001202858.1:c.1327C>T	NP_001189787.1:p.Arg443Ter
NM_001202858.2:c.1327C>T	NP_001189787.1:p.Arg443Ter
NM_004425.3:c.1246C>T	NP_004416.2:p.Arg416Ter
NM_022664.2:c.871C>T	NP_073155.2:p.Arg291Ter
NM_022664.3:c.871C>T	NP_073155.2:p.Arg291Ter
ENST00000346569.6:c.871C>T	ENSP00000271630.6:p.Arg291Ter
ENST00000369047.8:c.1246C>T	ENSP00000358043.4:p.Arg416Ter
ENST00000369049.8:c.1327C>T	ENSP00000358045.4:p.Arg443Ter
ENST00000470432.5:n.2603C>T