Canonical Allele Identifier: CA492962467

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1309397595
• gnomAD v2: 16-2142524-T-G
• gnomAD v3: 16-2092523-T-G
• gnomAD v4: 16-2092523-T-G
• MyVariant Identifiers: chr16:g.2142524T>G (hg19) ; chr16:g.2092523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092523T>G , CM000678.2:g.2092523T>G	GRCh38
NC_000016.9:g.2142524T>G , CM000678.1:g.2142524T>G	GRCh37
NC_000016.8:g.2082525T>G	NCBI36
NG_008617.1:g.50698A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11226A>C (PKD1) MANE Select	ENSP00000262304.4:p.Pro3742=
ENST00000262304.8:c.11226A>C (PKD1)	ENSP00000262304.4:p.Pro3742=
ENST00000423118.5:c.11223A>C (PKD1)	ENSP00000399501.1:p.Pro3741=
ENST00000485120.1:n.75A>C (PKD1)
ENST00000487932.5:c.5788A>C (PKD1)	ENSP00000457132.1:n.5788A>C
ENST00000562425.1:c.339A>C (PKD1)
ENST00000567355.1:n.389A>C (PKD1)
NM_000296.3:c.11223A>C (PKD1)	NP_000287.3:p.Pro3741=
NM_001009944.2:c.11226A>C (PKD1)	NP_001009944.2:p.Pro3742=
XM_005255370.2:c.8181A>C (PKD1)	XP_005255427.1:p.Pro2727=
XM_011522525.1:c.11304A>C (PKD1)	XP_011520827.1:p.Pro3768=
XM_011522526.1:c.11301A>C (PKD1)	XP_011520828.1:p.Pro3767=
XM_011522527.1:c.11286A>C (PKD1)	XP_011520829.1:p.Pro3762=
XM_011522528.1:c.11280A>C (PKD1)	XP_011520830.1:p.Pro3760=
XM_011522529.1:c.11277A>C (PKD1)	XP_011520831.1:p.Pro3759=
XM_011522530.1:c.11250A>C (PKD1)	XP_011520832.1:p.Pro3750=
XM_011522531.1:c.11232A>C (PKD1)	XP_011520833.1:p.Pro3744=
XM_011522532.1:c.11178A>C (PKD1)	XP_011520834.1:p.Pro3726=
XM_011522533.1:c.11097A>C (PKD1)	XP_011520835.1:p.Pro3699=
XM_011522534.1:c.11040A>C (PKD1)	XP_011520836.1:p.Pro3680=
XM_011522535.1:c.9126A>C (PKD1)	XP_011520837.1:p.Pro3042=
XM_011522537.1:c.8304A>C (PKD1)	XP_011520839.1:p.Pro2768=
XR_932867.1:n.11319A>C (PKD1)
XR_932868.1:n.11110-335A>C (PKD1)
XR_932869.1:n.11110-335A>C (PKD1)
XR_932870.1:n.11179A>C (PKD1)
XR_933000.1:n.90-366T>G (PKD1-AS1)
XR_933001.1:n.180-366T>G (PKD1-AS1)
XR_933002.1:n.89-366T>G (PKD1-AS1)
XR_933003.1:n.89-366T>G (PKD1-AS1)
NR_135175.1:n.180-366T>G (PKD1-AS1)
XM_005255370.3:c.8181A>C (PKD1)	XP_005255427.1:p.Pro2727=
XM_011522528.3:c.11280A>C (PKD1)	XP_011520830.1:p.Pro3760=
XM_011522529.2:c.11277A>C (PKD1)	XP_011520831.1:p.Pro3759=
XM_011522537.2:c.8304A>C (PKD1)	XP_011520839.1:p.Pro2768=
XM_024450298.1:c.11346A>C (PKD1)	XP_024306066.1:p.Pro3782=
XM_024450299.1:c.11274A>C (PKD1)	XP_024306067.1:p.Pro3758=
XM_024450300.1:c.11136A>C (PKD1)	XP_024306068.1:p.Pro3712=
XM_024450301.1:c.9222A>C (PKD1)	XP_024306069.1:p.Pro3074=
NM_000296.4:c.11223A>C (PKD1)	NP_000287.4:p.Pro3741=
NM_001009944.3:c.11226A>C (PKD1) MANE Select	NP_001009944.3:p.Pro3742=