Canonical Allele Identifier: CA2854109
Community Standard Title: NM_001014447.3(CPZ):c.1804G>A (p.Asp602Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.8619462G>A , CM000666.2:g.8619462G>A GRCh38
NC_000004.11:g.8621189G>A , CM000666.1:g.8621189G>A GRCh37
NC_000004.10:g.8672089G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001014447.3:c.1804G>A (CPZ) MANE Select NP_001014447.2:p.Asp602Asn
ENST00000360986.9:c.1804G>A (CPZ) MANE Select ENSP00000354255.4:p.Asp602Asn
NM_001014447.2:c.1804G>A (CPZ) NP_001014447.1:p.Asp602Asn
NM_001014448.2:c.1393G>A (CPZ) NP_001014448.1:p.Asp465Asn
NM_001014448.3:c.1393G>A (CPZ) NP_001014448.2:p.Asp465Asn
NM_003652.3:c.1771G>A (CPZ) NP_003643.2:p.Asp591Asn
NM_003652.4:c.1771G>A (CPZ) NP_003643.3:p.Asp591Asn
ENST00000315782.6:c.1771G>A (CPZ) ENSP00000315074.6:p.Asp591Asn
ENST00000360986.8:c.1804G>A (CPZ) ENSP00000354255.4:p.Asp602Asn
ENST00000382480.6:c.1393G>A (CPZ) ENSP00000371920.2:p.Asp465Asn
ENST00000513120.2:n.3421G>A (GPR78)
ENST00000513486.1:n.638G>A (CPZ)
ENST00000514302.5:c.*1819G>A (GPR78) ENSP00000424326.1:n.*1819G>A
ENST00000515606.1:c.*1857G>A (CPZ) ENSP00000422693.1:n.*1857G>A