Canonical Allele Identifier: CA248424

Gene: PRR5 PRR5-ARHGAP8

Linked Data

• ClinVar Variation Id: 156717
• ClinVar RCV Id: RCV000190295
• dbSNP Id: rs587777903
• gnomAD v4: 22-44714622-C-A
• MyVariant Identifiers: chr22:g.45110502C>A (hg19) ; chr22:g.44714622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.44714622C>A , CM000684.2:g.44714622C>A	GRCh38
NC_000022.10:g.45110502C>A , CM000684.1:g.45110502C>A	GRCh37
NC_000022.9:g.43489166C>A	NCBI36
NG_029235.1:g.51076C>A
NG_046967.1:g.17425C>A
NG_029235.2:g.51076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336985.11:c.166C>A (PRR5) MANE Select	ENSP00000337464.6:p.Arg56Ser
ENST00000006251.11:c.139C>A (PRR5)	ENSP00000006251.7:p.Arg47Ser
ENST00000336985.10:c.166C>A (PRR5)	ENSP00000337464.6:p.Arg56Ser
ENST00000352766.11:c.166C>A (PRR5-ARHGAP8)	ENSP00000262731.11:p.Arg56Ser
ENST00000361473.9:c.166C>A (PRR5-ARHGAP8)	ENSP00000354732.5:p.Arg56Ser
ENST00000403581.5:c.235C>A (PRR5)	ENSP00000384848.1:p.Arg79Ser
ENST00000403696.5:c.166C>A (PRR5)	ENSP00000384746.1:p.Arg56Ser
ENST00000431834.5:c.166C>A (PRR5)	ENSP00000407637.1:p.Arg56Ser
ENST00000432186.5:c.139C>A (PRR5)	ENSP00000400925.1:p.Arg47Ser
ENST00000432916.5:c.139C>A (PRR5)	ENSP00000392026.1:p.Arg47Ser
ENST00000457960.5:c.139C>A (PRR5)	ENSP00000410215.1:p.Arg47Ser
ENST00000459857.5:n.305C>A (PRR5)
ENST00000477331.5:n.121C>A (PRR5)
ENST00000492289.5:n.256C>A (PRR5)
ENST00000492475.5:n.292C>A (PRR5)
ENST00000611394.4:c.139C>A (PRR5)	ENSP00000480357.1:p.Arg47Ser
ENST00000617066.4:c.-120C>A (PRR5)	ENSP00000479623.1:n.-120C>A
ENST00000624862.3:c.-120C>A (PRR5)	ENSP00000485597.1:n.-120C>A
NM_001017528.2:c.139C>A (PRR5)	NP_001017528.1:p.Arg47Ser
NM_001017529.2:c.-120C>A (PRR5)	NP_001017529.1:n.-120C>A
NM_001017530.1:c.-120C>A (PRR5)	NP_001017530.1:n.-120C>A
NM_001198721.1:c.235C>A (PRR5)	NP_001185650.1:p.Arg79Ser
NM_015366.3:c.139C>A (PRR5)	NP_056181.2:p.Arg47Ser
NM_181333.3:c.166C>A (PRR5)	NP_851850.1:p.Arg56Ser
NM_181334.5:c.166C>A (PRR5-ARHGAP8)	NP_851851.3:p.Arg56Ser
NM_181333.4:c.166C>A (PRR5) MANE Select	NP_851850.1:p.Arg56Ser
NM_001198721.2:c.235C>A (PRR5)	NP_001185650.1:p.Arg79Ser
NM_015366.4:c.139C>A (PRR5)	NP_056181.2:p.Arg47Ser
NM_001017528.3:c.139C>A (PRR5)	NP_001017528.1:p.Arg47Ser
NM_001017529.3:c.-120C>A (PRR5)	NP_001017529.1:n.-120C>A
NM_001017530.2:c.-120C>A (PRR5)	NP_001017530.1:n.-120C>A
NM_181334.6:c.166C>A (PRR5-ARHGAP8)	NP_851851.3:p.Arg56Ser