Canonical Allele Identifier: CA342334946

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150513236G>T , CM000663.2:g.150513236G>T	GRCh38
NC_000001.10:g.150485712G>T , CM000663.1:g.150485712G>T	GRCh37
NC_000001.9:g.148752336G>T	NCBI36
NG_012062.1:g.10226G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.1393-1G>T MANE Select	NP_004416.2:n.1393-1G>T
ENST00000369047.9:c.1393-1G>T MANE Select	ENSP00000358043.4:n.1393-1G>T
NM_001202858.1:c.1474-1G>T	NP_001189787.1:n.1474-1G>T
NM_001202858.2:c.1474-1G>T	NP_001189787.1:n.1474-1G>T
NM_004425.3:c.1393-1G>T	NP_004416.2:n.1393-1G>T
NM_022664.2:c.1018-1G>T	NP_073155.2:n.1018-1G>T
NM_022664.3:c.1018-1G>T	NP_073155.2:n.1018-1G>T
ENST00000346569.6:c.1018-1G>T	ENSP00000271630.6:n.1018-1G>T
ENST00000369047.8:c.1393-1G>T	ENSP00000358043.4:n.1393-1G>T
ENST00000369049.8:c.1474-1G>T	ENSP00000358045.4:n.1474-1G>T
ENST00000470432.5:n.2750-1G>T