Canonical Allele Identifier: CA3036975

Gene: CYP2U1 CYP2U1-AS1

Linked Data

• ClinVar Variation Id: 452869
• ClinVar RCV Id: RCV000521418 ; RCV001858042 ; RCV002528284
• dbSNP Id: rs763896315
• ExAC: 4:108853157 T / C
• gnomAD v2: 4-108853157-T-C
• gnomAD v3: 4-107932001-T-C
• gnomAD v4: 4-107932001-T-C
• MyVariant Identifiers: chr4:g.108853157T>C (hg19) ; chr4:g.107932001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107932001T>C , CM000666.2:g.107932001T>C	GRCh38
NC_000004.11:g.108853157T>C , CM000666.1:g.108853157T>C	GRCh37
NC_000004.10:g.109072606T>C	NCBI36
NG_007961.1:g.5441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332884.11:c.358T>C (CYP2U1) MANE Select	ENSP00000333212.6:p.Phe120Leu
ENST00000332884.10:c.358T>C (CYP2U1)	ENSP00000333212.6:p.Phe120Leu
ENST00000508453.1:c.-468T>C (CYP2U1)	ENSP00000423667.1:n.-468T>C
ENST00000513302.1:n.417T>C (CYP2U1)
NM_183075.2:c.358T>C (CYP2U1)	NP_898898.1:p.Phe120Leu
NR_125929.1:n.119A>G (CYP2U1-AS1)
XM_005262717.2:c.358T>C (CYP2U1)	XP_005262774.1:p.Phe120Leu
XM_005262720.2:c.358T>C (CYP2U1)	XP_005262777.1:p.Phe120Leu
XR_001741783.1:n.156-21452A>G
XR_001741784.1:n.531-21452A>G
NM_183075.3:c.358T>C (CYP2U1) MANE Select	NP_898898.1:p.Phe120Leu