Canonical Allele Identifier: CA372222291

Gene: PHF20L1

Linked Data

• ClinVar Variation Id: 2318021
• ClinVar RCV Id: RCV004163729
• MyVariant Identifiers: chr8:g.133790117A>T (hg19) ; chr8:g.132777871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132777871A>T , CM000670.2:g.132777871A>T	GRCh38
NC_000008.10:g.133790117A>T , CM000670.1:g.133790117A>T	GRCh37
NC_000008.9:g.133859299A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395386.7:c.43A>T MANE Select	ENSP00000378784.2:p.Ile15Phe
ENST00000220847.8:c.43A>T	ENSP00000220847.8:p.Ile15Phe
ENST00000315808.14:n.326A>T
ENST00000337920.8:c.43A>T	ENSP00000338269.4:p.Ile15Phe
ENST00000361997.9:n.351A>T
ENST00000395376.5:c.43A>T	ENSP00000378775.1:p.Ile15Phe
ENST00000395379.5:c.43A>T	ENSP00000378777.1:p.Ile15Phe
ENST00000395383.5:n.350A>T
ENST00000395386.6:c.43A>T	ENSP00000378784.2:p.Ile15Phe
ENST00000395390.6:c.43A>T	ENSP00000378788.2:p.Ile15Phe
ENST00000485595.5:c.43A>T	ENSP00000487068.1:p.Ile15Phe
ENST00000486199.5:c.43A>T	ENSP00000433125.1:p.Ile15Phe
ENST00000522580.5:c.-280A>T	ENSP00000428091.1:n.-280A>T
ENST00000622263.4:c.43A>T	ENSP00000482945.1:p.Ile15Phe
NM_001277196.1:c.43A>T	NP_001264125.1:p.Ile15Phe
NM_016018.4:c.43A>T	NP_057102.4:p.Ile15Phe
NM_198513.1:c.43A>T	NP_940915.1:p.Ile15Phe
XM_005250931.1:c.43A>T	XP_005250988.1:p.Ile15Phe
XM_011517075.1:c.43A>T	XP_011515377.1:p.Ile15Phe
XM_011517076.1:c.43A>T	XP_011515378.1:p.Ile15Phe
XM_011517077.1:c.43A>T	XP_011515379.1:p.Ile15Phe
XM_011517078.1:c.43A>T	XP_011515380.1:p.Ile15Phe
XM_011517079.1:c.43A>T	XP_011515381.1:p.Ile15Phe
XM_011517080.1:c.43A>T	XP_011515382.1:p.Ile15Phe
XM_011517081.1:c.43A>T	XP_011515383.1:p.Ile15Phe
XM_011517082.1:c.-280A>T	XP_011515384.1:n.-280A>T
XM_011517083.1:c.43A>T	XP_011515385.1:p.Ile15Phe
XM_011517084.1:c.-196A>T	XP_011515386.1:n.-196A>T
XM_011517085.1:c.-196A>T	XP_011515387.1:n.-196A>T
XM_011517086.1:c.43A>T	XP_011515388.1:p.Ile15Phe
XM_011517087.1:c.43A>T	XP_011515389.1:p.Ile15Phe
XM_011517088.1:c.43A>T	XP_011515390.1:p.Ile15Phe
XM_011517089.1:c.43A>T	XP_011515391.1:p.Ile15Phe
NM_001362971.1:c.43A>T	NP_001349900.1:p.Ile15Phe
NR_156424.1:n.364A>T
XM_017013509.1:c.43A>T	XP_016868998.1:p.Ile15Phe
XM_017013510.1:c.43A>T	XP_016868999.1:p.Ile15Phe
XM_017013511.1:c.43A>T	XP_016869000.1:p.Ile15Phe
XM_017013513.1:c.-3154A>T	XP_016869002.1:n.-3154A>T
XM_017013514.2:c.-3154A>T	XP_016869003.1:n.-3154A>T
XM_017013516.1:c.43A>T	XP_016869005.1:p.Ile15Phe
XM_017013517.1:c.43A>T	XP_016869006.1:p.Ile15Phe
XR_001745533.1:n.338A>T
XR_001745535.1:n.338A>T
XR_001745536.1:n.338A>T
NM_001277196.2:c.43A>T	NP_001264125.1:p.Ile15Phe
NM_016018.5:c.43A>T MANE Select	NP_057102.4:p.Ile15Phe
NR_156424.2:n.334A>T
NM_001362971.2:c.43A>T	NP_001349900.1:p.Ile15Phe
NM_198513.2:c.43A>T	NP_940915.1:p.Ile15Phe