Canonical Allele Identifier: CA13430007
Gene: ZPR1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116786845C>T , CM000673.2:g.116786845C>T GRCh38
NC_000011.9:g.116657561C>T , CM000673.1:g.116657561C>T GRCh37
NC_000011.8:g.116162771C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000227322.8:c.424+124G>A MANE Select ENSP00000227322.3:n.424+124G>A
ENST00000227322.7:c.424+124G>A ENSP00000227322.3:n.424+124G>A
ENST00000425791.1:c.*246+124G>A ENSP00000410141.1:n.*246+124G>A
ENST00000429220.5:c.251+124G>A
ENST00000431973.5:c.291+124G>A
ENST00000444935.5:c.423+124G>A
ENST00000498065.1:n.368+124G>A
NM_003904.3:c.424+124G>A NP_003895.1:n.424+124G>A
NM_001317086.1:c.262+124G>A NP_001304015.1:n.262+124G>A
NM_003904.4:c.424+124G>A NP_003895.1:n.424+124G>A
XR_001748023.2:n.1706+124G>A
NM_003904.5:c.424+124G>A MANE Select NP_003895.1:n.424+124G>A
NM_001317086.2:c.262+124G>A NP_001304015.1:n.262+124G>A