Canonical Allele Identifier: CA342334162

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150511799C>T , CM000663.2:g.150511799C>T	GRCh38
NC_000001.10:g.150484275C>T , CM000663.1:g.150484275C>T	GRCh37
NC_000001.9:g.148750899C>T	NCBI36
NG_012062.1:g.8789C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.1051C>T MANE Select	NP_004416.2:p.Gln351Ter
ENST00000369047.9:c.1051C>T MANE Select	ENSP00000358043.4:p.Gln351Ter
NM_001202858.1:c.1132C>T	NP_001189787.1:p.Gln378Ter
NM_001202858.2:c.1132C>T	NP_001189787.1:p.Gln378Ter
NM_004425.3:c.1051C>T	NP_004416.2:p.Gln351Ter
NM_022664.2:c.709-553C>T	NP_073155.2:n.709-553C>T
NM_022664.3:c.709-553C>T	NP_073155.2:n.709-553C>T
ENST00000346569.6:c.709-553C>T	ENSP00000271630.6:n.709-553C>T
ENST00000369047.8:c.1051C>T	ENSP00000358043.4:p.Gln351Ter
ENST00000369049.8:c.1132C>T	ENSP00000358045.4:p.Gln378Ter
ENST00000470432.5:n.2408C>T