Canonical Allele Identifier: CA2229423
Community Standard Title: NM_016302.4(CRBN):c.40A>T (p.Met14Leu)
Gene: CRBN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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