Canonical Allele Identifier: CA7829251

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs746306247
• ExAC: 16:2142506 C / A
• gnomAD v2: 16-2142506-C-A
• gnomAD v3: 16-2092505-C-A
• gnomAD v4: 16-2092505-C-A
• MyVariant Identifiers: chr16:g.2142506C>A (hg19) ; chr16:g.2092505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092505C>A , CM000678.2:g.2092505C>A	GRCh38
NC_000016.9:g.2142506C>A , CM000678.1:g.2142506C>A	GRCh37
NC_000016.8:g.2082507C>A	NCBI36
NG_008617.1:g.50716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11244G>T (PKD1) MANE Select	ENSP00000262304.4:p.Arg3748=
ENST00000262304.8:c.11244G>T (PKD1)	ENSP00000262304.4:p.Arg3748=
ENST00000423118.5:c.11241G>T (PKD1)	ENSP00000399501.1:p.Arg3747=
ENST00000485120.1:n.93G>T (PKD1)
ENST00000487932.5:c.5806G>T (PKD1)	ENSP00000457132.1:n.5806G>T
ENST00000562425.1:c.357G>T (PKD1)
ENST00000567355.1:n.407G>T (PKD1)
NM_000296.3:c.11241G>T (PKD1)	NP_000287.3:p.Arg3747=
NM_001009944.2:c.11244G>T (PKD1)	NP_001009944.2:p.Arg3748=
XM_005255370.2:c.8199G>T (PKD1)	XP_005255427.1:p.Arg2733=
XM_011522525.1:c.11322G>T (PKD1)	XP_011520827.1:p.Arg3774=
XM_011522526.1:c.11319G>T (PKD1)	XP_011520828.1:p.Arg3773=
XM_011522527.1:c.11304G>T (PKD1)	XP_011520829.1:p.Arg3768=
XM_011522528.1:c.11298G>T (PKD1)	XP_011520830.1:p.Arg3766=
XM_011522529.1:c.11295G>T (PKD1)	XP_011520831.1:p.Arg3765=
XM_011522530.1:c.11268G>T (PKD1)	XP_011520832.1:p.Arg3756=
XM_011522531.1:c.11250G>T (PKD1)	XP_011520833.1:p.Arg3750=
XM_011522532.1:c.11196G>T (PKD1)	XP_011520834.1:p.Arg3732=
XM_011522533.1:c.11115G>T (PKD1)	XP_011520835.1:p.Arg3705=
XM_011522534.1:c.11058G>T (PKD1)	XP_011520836.1:p.Arg3686=
XM_011522535.1:c.9144G>T (PKD1)	XP_011520837.1:p.Arg3048=
XM_011522537.1:c.8322G>T (PKD1)	XP_011520839.1:p.Arg2774=
XR_932867.1:n.11337G>T (PKD1)
XR_932868.1:n.11110-317G>T (PKD1)
XR_932869.1:n.11110-317G>T (PKD1)
XR_932870.1:n.11197G>T (PKD1)
XR_933000.1:n.90-384C>A (PKD1-AS1)
XR_933001.1:n.180-384C>A (PKD1-AS1)
XR_933002.1:n.89-384C>A (PKD1-AS1)
XR_933003.1:n.89-384C>A (PKD1-AS1)
NR_135175.1:n.180-384C>A (PKD1-AS1)
XM_005255370.3:c.8199G>T (PKD1)	XP_005255427.1:p.Arg2733=
XM_011522528.3:c.11298G>T (PKD1)	XP_011520830.1:p.Arg3766=
XM_011522529.2:c.11295G>T (PKD1)	XP_011520831.1:p.Arg3765=
XM_011522537.2:c.8322G>T (PKD1)	XP_011520839.1:p.Arg2774=
XM_024450298.1:c.11364G>T (PKD1)	XP_024306066.1:p.Arg3788=
XM_024450299.1:c.11292G>T (PKD1)	XP_024306067.1:p.Arg3764=
XM_024450300.1:c.11154G>T (PKD1)	XP_024306068.1:p.Arg3718=
XM_024450301.1:c.9240G>T (PKD1)	XP_024306069.1:p.Arg3080=
NM_000296.4:c.11241G>T (PKD1)	NP_000287.4:p.Arg3747=
NM_001009944.3:c.11244G>T (PKD1) MANE Select	NP_001009944.3:p.Arg3748=