Canonical Allele Identifier: CA492962420

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092490-C-G
• MyVariant Identifiers: chr16:g.2142491C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092490C>G , CM000678.2:g.2092490C>G	GRCh38
NC_000016.9:g.2142491C>G , CM000678.1:g.2142491C>G	GRCh37
NC_000016.8:g.2082492C>G	NCBI36
NG_008617.1:g.50731G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11259G>C (PKD1) MANE Select	ENSP00000262304.4:p.Arg3753=
ENST00000262304.8:c.11259G>C (PKD1)	ENSP00000262304.4:p.Arg3753=
ENST00000423118.5:c.11256G>C (PKD1)	ENSP00000399501.1:p.Arg3752=
ENST00000485120.1:n.108G>C (PKD1)
ENST00000487932.5:c.5821G>C (PKD1)	ENSP00000457132.1:n.5821G>C
ENST00000562425.1:c.372G>C (PKD1)
ENST00000567355.1:n.422G>C (PKD1)
NM_000296.3:c.11256G>C (PKD1)	NP_000287.3:p.Arg3752=
NM_001009944.2:c.11259G>C (PKD1)	NP_001009944.2:p.Arg3753=
XM_005255370.2:c.8214G>C (PKD1)	XP_005255427.1:p.Arg2738=
XM_011522525.1:c.11337G>C (PKD1)	XP_011520827.1:p.Arg3779=
XM_011522526.1:c.11334G>C (PKD1)	XP_011520828.1:p.Arg3778=
XM_011522527.1:c.11319G>C (PKD1)	XP_011520829.1:p.Arg3773=
XM_011522528.1:c.11313G>C (PKD1)	XP_011520830.1:p.Arg3771=
XM_011522529.1:c.11310G>C (PKD1)	XP_011520831.1:p.Arg3770=
XM_011522530.1:c.11283G>C (PKD1)	XP_011520832.1:p.Arg3761=
XM_011522531.1:c.11265G>C (PKD1)	XP_011520833.1:p.Arg3755=
XM_011522532.1:c.11211G>C (PKD1)	XP_011520834.1:p.Arg3737=
XM_011522533.1:c.11130G>C (PKD1)	XP_011520835.1:p.Arg3710=
XM_011522534.1:c.11073G>C (PKD1)	XP_011520836.1:p.Arg3691=
XM_011522535.1:c.9159G>C (PKD1)	XP_011520837.1:p.Arg3053=
XM_011522537.1:c.8337G>C (PKD1)	XP_011520839.1:p.Arg2779=
XR_932867.1:n.11352G>C (PKD1)
XR_932868.1:n.11110-302G>C (PKD1)
XR_932869.1:n.11110-302G>C (PKD1)
XR_932870.1:n.11212G>C (PKD1)
XR_933000.1:n.90-399C>G (PKD1-AS1)
XR_933001.1:n.180-399C>G (PKD1-AS1)
XR_933002.1:n.89-399C>G (PKD1-AS1)
XR_933003.1:n.89-399C>G (PKD1-AS1)
NR_135175.1:n.180-399C>G (PKD1-AS1)
XM_005255370.3:c.8214G>C (PKD1)	XP_005255427.1:p.Arg2738=
XM_011522528.3:c.11313G>C (PKD1)	XP_011520830.1:p.Arg3771=
XM_011522529.2:c.11310G>C (PKD1)	XP_011520831.1:p.Arg3770=
XM_011522537.2:c.8337G>C (PKD1)	XP_011520839.1:p.Arg2779=
XM_024450298.1:c.11379G>C (PKD1)	XP_024306066.1:p.Arg3793=
XM_024450299.1:c.11307G>C (PKD1)	XP_024306067.1:p.Arg3769=
XM_024450300.1:c.11169G>C (PKD1)	XP_024306068.1:p.Arg3723=
XM_024450301.1:c.9255G>C (PKD1)	XP_024306069.1:p.Arg3085=
NM_000296.4:c.11256G>C (PKD1)	NP_000287.4:p.Arg3752=
NM_001009944.3:c.11259G>C (PKD1) MANE Select	NP_001009944.3:p.Arg3753=