Canonical Allele Identifier: CA6675039
Community Standard Title: NM_018448.5(CAND1):c.1115A>T (p.Tyr372Phe)
Gene: CAND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.67302437A>T , CM000674.2:g.67302437A>T GRCh38
NC_000012.11:g.67696217A>T , CM000674.1:g.67696217A>T GRCh37
NC_000012.10:g.65982484A>T NCBI36
NG_051239.1:g.38157A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018448.5:c.1115A>T MANE Select NP_060918.2:p.Tyr372Phe
ENST00000545606.6:c.1115A>T MANE Select ENSP00000442318.1:p.Tyr372Phe
NM_001329674.1:c.1043A>T NP_001316603.1:p.Tyr348Phe
NM_001329674.2:c.1043A>T NP_001316603.1:p.Tyr348Phe
NM_001329675.1:c.1043A>T NP_001316604.1:p.Tyr348Phe
NM_001329675.2:c.1043A>T NP_001316604.1:p.Tyr348Phe
NM_001329676.1:c.1016A>T NP_001316605.1:p.Tyr339Phe
NM_001329676.2:c.1016A>T NP_001316605.1:p.Tyr339Phe
NM_018448.4:c.1115A>T NP_060918.2:p.Tyr372Phe
ENST00000540319.5:c.761A>T ENSP00000445794.1:p.Tyr254Phe
ENST00000544619.1:c.239A>T ENSP00000444089.1:p.Tyr80Phe
ENST00000545606.5:c.1115A>T ENSP00000442318.1:p.Tyr372Phe