Canonical Allele Identifier: CA342333002

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510989T>G , CM000663.2:g.150510989T>G	GRCh38
NC_000001.10:g.150483465T>G , CM000663.1:g.150483465T>G	GRCh37
NC_000001.9:g.148750089T>G	NCBI36
NG_012062.1:g.7979T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.499T>G MANE Select	NP_004416.2:p.Phe167Val
ENST00000369047.9:c.499T>G MANE Select	ENSP00000358043.4:p.Phe167Val
NM_001202858.1:c.580T>G	NP_001189787.1:p.Phe194Val
NM_001202858.2:c.580T>G	NP_001189787.1:p.Phe194Val
NM_004425.3:c.499T>G	NP_004416.2:p.Phe167Val
NM_022664.2:c.499T>G	NP_073155.2:p.Phe167Val
NM_022664.3:c.499T>G	NP_073155.2:p.Phe167Val
ENST00000346569.6:c.499T>G	ENSP00000271630.6:p.Phe167Val
ENST00000369047.8:c.499T>G	ENSP00000358043.4:p.Phe167Val
ENST00000369049.8:c.580T>G	ENSP00000358045.4:p.Phe194Val
ENST00000470432.5:n.1598T>G
ENST00000498579.5:n.786T>G