Canonical Allele Identifier: CA2853715
Community Standard Title: NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.8612120G>T , CM000666.2:g.8612120G>T GRCh38
NC_000004.11:g.8613847G>T , CM000666.1:g.8613847G>T GRCh37
NC_000004.10:g.8664747G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001014447.3:c.1321G>T (CPZ) MANE Select NP_001014447.2:p.Gly441Trp
ENST00000360986.9:c.1321G>T (CPZ) MANE Select ENSP00000354255.4:p.Gly441Trp
NM_001014447.2:c.1321G>T (CPZ) NP_001014447.1:p.Gly441Trp
NM_001014448.2:c.910G>T (CPZ) NP_001014448.1:p.Gly304Trp
NM_001014448.3:c.910G>T (CPZ) NP_001014448.2:p.Gly304Trp
NM_003652.3:c.1288G>T (CPZ) NP_003643.2:p.Gly430Trp
NM_003652.4:c.1288G>T (CPZ) NP_003643.3:p.Gly430Trp
ENST00000315782.6:c.1288G>T (CPZ) ENSP00000315074.6:p.Gly430Trp
ENST00000360986.8:c.1321G>T (CPZ) ENSP00000354255.4:p.Gly441Trp
ENST00000382480.6:c.910G>T (CPZ) ENSP00000371920.2:p.Gly304Trp
ENST00000513120.2:n.2938G>T (GPR78)
ENST00000514302.5:c.*1336G>T (GPR78) ENSP00000424326.1:n.*1336G>T
ENST00000515606.1:c.*1374G>T (CPZ) ENSP00000422693.1:n.*1374G>T