Canonical Allele Identifier: CA454692555

Linked Data

MyVariant Identifiers: chr7:g.37988632A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949030A>C , CM000669.2:g.37949030A>C GRCh38
NC_000007.13:g.37988632A>C , CM000669.1:g.37988632A>C GRCh37
NC_000007.12:g.37955157A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199448.9:c.460A>C (EPDR1) MANE Select ENSP00000199448.4:p.Arg154=
ENST00000199448.8:c.460A>C (EPDR1) ENSP00000199448.4:p.Arg154=
ENST00000423717.1:c.270-1170A>C (EPDR1) ENSP00000409211.1:n.270-1170A>C
ENST00000425345.1:c.277A>C (EPDR1) ENSP00000413359.1:p.Arg93=
ENST00000447200.2:c.-52-22256T>G (SFRP4) ENSP00000402262.2:n.-52-22256T>G
ENST00000476620.1:c.154A>C (EPDR1) ENSP00000425858.1:p.Arg52=
NM_001242946.1:c.270-1170A>C (EPDR1) NP_001229875.2:n.270-1170A>C
NM_001242948.1:c.277A>C (EPDR1) NP_001229877.1:p.Arg93=
NM_017549.4:c.460A>C (EPDR1) NP_060019.2:p.Arg154=
NM_017549.5:c.460A>C (EPDR1) MANE Select NP_060019.2:p.Arg154=
NM_001242946.2:c.270-1170A>C (EPDR1) NP_001229875.2:n.270-1170A>C
NM_001242948.2:c.277A>C (EPDR1) NP_001229877.1:p.Arg93=