Canonical Allele Identifier: CA454692588

Linked Data

MyVariant Identifiers: chr7:g.37988649C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37949047C>T , CM000669.2:g.37949047C>T GRCh38
NC_000007.13:g.37988649C>T , CM000669.1:g.37988649C>T GRCh37
NC_000007.12:g.37955174C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199448.9:c.477C>T (EPDR1) MANE Select ENSP00000199448.4:p.Ser159=
ENST00000199448.8:c.477C>T (EPDR1) ENSP00000199448.4:p.Ser159=
ENST00000423717.1:c.270-1153C>T (EPDR1) ENSP00000409211.1:n.270-1153C>T
ENST00000425345.1:c.294C>T (EPDR1) ENSP00000413359.1:p.Ser98=
ENST00000447200.2:c.-52-22273G>A (SFRP4) ENSP00000402262.2:n.-52-22273G>A
ENST00000476620.1:c.171C>T (EPDR1) ENSP00000425858.1:p.Ser57=
NM_001242946.1:c.270-1153C>T (EPDR1) NP_001229875.2:n.270-1153C>T
NM_001242948.1:c.294C>T (EPDR1) NP_001229877.1:p.Ser98=
NM_017549.4:c.477C>T (EPDR1) NP_060019.2:p.Ser159=
NM_017549.5:c.477C>T (EPDR1) MANE Select NP_060019.2:p.Ser159=
NM_001242946.2:c.270-1153C>T (EPDR1) NP_001229875.2:n.270-1153C>T
NM_001242948.2:c.294C>T (EPDR1) NP_001229877.1:p.Ser98=