Canonical Allele Identifier: CA3036959
Community Standard Title: NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)
Gene: CYP2U1 HGNC NCBI
CYP2U1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.107931703C>T , CM000666.2:g.107931703C>T GRCh38
NC_000004.11:g.108852859C>T , CM000666.1:g.108852859C>T GRCh37
NC_000004.10:g.109072308C>T NCBI36
NG_007961.1:g.5143C>T

Transcript Alleles

HGVS Amino-acid Change
NM_183075.3:c.60C>T (CYP2U1) MANE Select NP_898898.1:p.Leu20=
ENST00000332884.11:c.60C>T (CYP2U1) MANE Select ENSP00000333212.6:p.Leu20=
NM_183075.2:c.60C>T (CYP2U1) NP_898898.1:p.Leu20=
NR_125929.1:n.149+268G>A (CYP2U1-AS1)
ENST00000332884.10:c.60C>T (CYP2U1) ENSP00000333212.6:p.Leu20=
ENST00000508453.1:c.-766C>T (CYP2U1) ENSP00000423667.1:n.-766C>T
ENST00000513302.1:n.119C>T (CYP2U1)
XM_005262717.2:c.60C>T (CYP2U1) XP_005262774.1:p.Leu20=
XM_005262720.2:c.60C>T (CYP2U1) XP_005262777.1:p.Leu20=
XR_001741783.1:n.156-21154G>A
XR_001741784.1:n.531-21154G>A