Canonical Allele Identifier: CA2229424
Community Standard Title: NM_016302.4(CRBN):c.40A>C (p.Met14Leu)
Gene: CRBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.3179648T>G , CM000665.2:g.3179648T>G GRCh38
NC_000003.11:g.3221332T>G , CM000665.1:g.3221332T>G GRCh37
NC_000003.10:g.3196332T>G NCBI36
NG_016864.1:g.5070A>C
NG_016864.2:g.5070A>C

Transcript Alleles

HGVS Amino-acid Change
NM_016302.4:c.40A>C MANE Select NP_057386.2:p.Met14Leu
ENST00000231948.9:c.40A>C MANE Select ENSP00000231948.4:p.Met14Leu
NM_001173482.1:c.40A>C NP_001166953.1:p.Met14Leu
NM_016302.3:c.40A>C NP_057386.2:p.Met14Leu
ENST00000231948.8:c.40A>C ENSP00000231948.4:p.Met14Leu
ENST00000424814.5:c.27A>C
ENST00000432408.6:c.40A>C ENSP00000412499.2:p.Met14Leu
ENST00000450014.1:c.27A>C
ENST00000478353.1:n.57A>C
ENST00000491834.5:n.44A>C
ENST00000498700.5:n.54A>C
ENST00000639284.1:c.40A>C ENSP00000491442.1:p.Met14Leu
XM_005265202.2:c.-43A>C XP_005265259.1:n.-43A>C
XM_005265202.4:c.-43A>C XP_005265259.1:n.-43A>C
XM_011533791.1:c.40A>C XP_011532093.1:p.Met14Leu
XM_011533791.3:c.40A>C XP_011532093.1:p.Met14Leu
XM_011533792.1:c.40A>C XP_011532094.1:p.Met14Leu
XM_011533793.1:c.-594A>C XP_011532095.1:n.-594A>C
XM_011533793.2:c.-594A>C XP_011532095.1:n.-594A>C
XM_011533794.1:c.-487A>C XP_011532096.1:n.-487A>C
XM_011533794.2:c.-487A>C XP_011532096.1:n.-487A>C
XM_024453551.1:c.40A>C XP_024309319.1:p.Met14Leu
XR_940448.1:n.57A>C
XR_940448.3:n.54A>C