Canonical Allele Identifier: CA342332790

Gene: ECM1

Linked Data

• MyVariant Identifiers: chr1:g.150483370G>T (hg19) ; chr1:g.150510894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510894G>T , CM000663.2:g.150510894G>T	GRCh38
NC_000001.10:g.150483370G>T , CM000663.1:g.150483370G>T	GRCh37
NC_000001.9:g.148749994G>T	NCBI36
NG_012062.1:g.7884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.404G>T MANE Select	ENSP00000358043.4:p.Gly135Val
ENST00000346569.6:c.404G>T	ENSP00000271630.6:p.Gly135Val
ENST00000369047.8:c.404G>T	ENSP00000358043.4:p.Gly135Val
ENST00000369049.8:c.485G>T	ENSP00000358045.4:p.Gly162Val
ENST00000470432.5:n.1503G>T
ENST00000498579.5:n.691G>T
NM_001202858.1:c.485G>T	NP_001189787.1:p.Gly162Val
NM_004425.3:c.404G>T	NP_004416.2:p.Gly135Val
NM_022664.2:c.404G>T	NP_073155.2:p.Gly135Val
NM_004425.4:c.404G>T MANE Select	NP_004416.2:p.Gly135Val
NM_001202858.2:c.485G>T	NP_001189787.1:p.Gly162Val
NM_022664.3:c.404G>T	NP_073155.2:p.Gly135Val