Canonical Allele Identifier: CA1700816878

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949230T= , CM000669.2:g.37949230T= GRCh38
NC_000007.13:g.37988832T= , CM000669.1:g.37988832T= GRCh37
NC_000007.12:g.37955357T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199448.9:c.478+182T= (EPDR1) MANE Select ENSP00000199448.4:n.478+182T=
ENST00000199448.8:c.478+182T= (EPDR1) ENSP00000199448.4:n.478+182T=
ENST00000423717.1:c.270-970T= (EPDR1) ENSP00000409211.1:n.270-970T=
ENST00000425345.1:c.295+182T= (EPDR1) ENSP00000413359.1:n.295+182T=
ENST00000447200.2:c.-52-22456A= (SFRP4) ENSP00000402262.2:n.-52-22456A=
ENST00000476620.1:c.172+182T= (EPDR1) ENSP00000425858.1:n.172+182T=
NM_001242946.1:c.270-970T= (EPDR1) NP_001229875.2:n.270-970T=
NM_001242948.1:c.295+182T= (EPDR1) NP_001229877.1:n.295+182T=
NM_017549.4:c.478+182T= (EPDR1) NP_060019.2:n.478+182T=
NM_017549.5:c.478+182T= (EPDR1) MANE Select NP_060019.2:n.478+182T=
NM_001242946.2:c.270-970T= (EPDR1) NP_001229875.2:n.270-970T=
NM_001242948.2:c.295+182T= (EPDR1) NP_001229877.1:n.295+182T=