Canonical Allele Identifier: CA342332812

Gene: ECM1

Linked Data

• MyVariant Identifiers: chr1:g.150483379G>C (hg19) ; chr1:g.150510903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510903G>C , CM000663.2:g.150510903G>C	GRCh38
NC_000001.10:g.150483379G>C , CM000663.1:g.150483379G>C	GRCh37
NC_000001.9:g.148750003G>C	NCBI36
NG_012062.1:g.7893G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369047.9:c.413G>C MANE Select	ENSP00000358043.4:p.Ser138Thr
ENST00000346569.6:c.413G>C	ENSP00000271630.6:p.Ser138Thr
ENST00000369047.8:c.413G>C	ENSP00000358043.4:p.Ser138Thr
ENST00000369049.8:c.494G>C	ENSP00000358045.4:p.Ser165Thr
ENST00000470432.5:n.1512G>C
ENST00000498579.5:n.700G>C
NM_001202858.1:c.494G>C	NP_001189787.1:p.Ser165Thr
NM_004425.3:c.413G>C	NP_004416.2:p.Ser138Thr
NM_022664.2:c.413G>C	NP_073155.2:p.Ser138Thr
NM_004425.4:c.413G>C MANE Select	NP_004416.2:p.Ser138Thr
NM_001202858.2:c.494G>C	NP_001189787.1:p.Ser165Thr
NM_022664.3:c.413G>C	NP_073155.2:p.Ser138Thr