Canonical Allele Identifier: CA385643184
Community Standard Title: NM_018448.5(CAND1):c.2344C>A (p.Pro782Thr)
Gene: CAND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.67306012C>A , CM000674.2:g.67306012C>A GRCh38
NC_000012.11:g.67699792C>A , CM000674.1:g.67699792C>A GRCh37
NC_000012.10:g.65986059C>A NCBI36
NG_051239.1:g.41732C>A

Transcript Alleles

HGVS Amino-acid Change
NM_018448.5:c.2344C>A MANE Select NP_060918.2:p.Pro782Thr
ENST00000545606.6:c.2344C>A MANE Select ENSP00000442318.1:p.Pro782Thr
NM_001329674.1:c.2272C>A NP_001316603.1:p.Pro758Thr
NM_001329674.2:c.2272C>A NP_001316603.1:p.Pro758Thr
NM_001329675.1:c.2272C>A NP_001316604.1:p.Pro758Thr
NM_001329675.2:c.2272C>A NP_001316604.1:p.Pro758Thr
NM_001329676.1:c.2245C>A NP_001316605.1:p.Pro749Thr
NM_001329676.2:c.2245C>A NP_001316605.1:p.Pro749Thr
NM_018448.4:c.2344C>A NP_060918.2:p.Pro782Thr
ENST00000540319.5:c.1290+700C>A ENSP00000445794.1:n.1290+700C>A
ENST00000544619.1:c.964C>A ENSP00000444089.1:p.Pro322Thr
ENST00000545606.5:c.2344C>A ENSP00000442318.1:p.Pro782Thr