Canonical Allele Identifier: CA1700800046
Community Standard Title: NM_017549.5(EPDR1):c.269+25G=

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37921233G= , CM000669.2:g.37921233G= GRCh38
NC_000007.13:g.37960835G= , CM000669.1:g.37960835G= GRCh37
NC_000007.12:g.37927360G= NCBI36
NG_052980.1:g.691C=

Transcript Alleles

HGVS Amino-acid Change
NM_017549.5:c.269+25G= (EPDR1) MANE Select NP_060019.2:n.269+25G=
ENST00000199448.9:c.269+25G= (EPDR1) MANE Select ENSP00000199448.4:n.269+25G=
NM_001242946.1:c.269+25G= (EPDR1) NP_001229875.2:n.269+25G=
NM_001242946.2:c.269+25G= (EPDR1) NP_001229875.2:n.269+25G=
NM_017549.4:c.269+25G= (EPDR1) NP_060019.2:n.269+25G=
ENST00000199448.8:c.269+25G= (EPDR1) ENSP00000199448.4:n.269+25G=
ENST00000423717.1:c.269+25G= (EPDR1) ENSP00000409211.1:n.269+25G=
ENST00000447200.2:c.43+5447C= (SFRP4) ENSP00000402262.2:n.43+5447C=
ENST00000476620.1:c.-37-27607G= (EPDR1) ENSP00000425858.1:n.-37-27607G=