Canonical Allele Identifier: CA394336417

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092566-G-T
• MyVariant Identifiers: chr16:g.2142567G>T (hg19) ; chr16:g.2092566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092566G>T , CM000678.2:g.2092566G>T	GRCh38
NC_000016.9:g.2142567G>T , CM000678.1:g.2142567G>T	GRCh37
NC_000016.8:g.2082568G>T	NCBI36
NG_008617.1:g.50655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11183C>A (PKD1) MANE Select	ENSP00000262304.4:p.Ala3728Asp
ENST00000262304.8:c.11183C>A (PKD1)	ENSP00000262304.4:p.Ala3728Asp
ENST00000423118.5:c.11180C>A (PKD1)	ENSP00000399501.1:p.Ala3727Asp
ENST00000485120.1:n.32C>A (PKD1)
ENST00000487932.5:c.5745C>A (PKD1)	ENSP00000457132.1:n.5745C>A
ENST00000562425.1:c.296C>A (PKD1)
ENST00000567355.1:n.346C>A (PKD1)
NM_000296.3:c.11180C>A (PKD1)	NP_000287.3:p.Ala3727Asp
NM_001009944.2:c.11183C>A (PKD1)	NP_001009944.2:p.Ala3728Asp
XM_005255370.2:c.8138C>A (PKD1)	XP_005255427.1:p.Ala2713Asp
XM_011522525.1:c.11261C>A (PKD1)	XP_011520827.1:p.Ala3754Asp
XM_011522526.1:c.11258C>A (PKD1)	XP_011520828.1:p.Ala3753Asp
XM_011522527.1:c.11243C>A (PKD1)	XP_011520829.1:p.Ala3748Asp
XM_011522528.1:c.11237C>A (PKD1)	XP_011520830.1:p.Ala3746Asp
XM_011522529.1:c.11234C>A (PKD1)	XP_011520831.1:p.Ala3745Asp
XM_011522530.1:c.11207C>A (PKD1)	XP_011520832.1:p.Ala3736Asp
XM_011522531.1:c.11189C>A (PKD1)	XP_011520833.1:p.Ala3730Asp
XM_011522532.1:c.11135C>A (PKD1)	XP_011520834.1:p.Ala3712Asp
XM_011522533.1:c.11054C>A (PKD1)	XP_011520835.1:p.Ala3685Asp
XM_011522534.1:c.10997C>A (PKD1)	XP_011520836.1:p.Ala3666Asp
XM_011522535.1:c.9083C>A (PKD1)	XP_011520837.1:p.Ala3028Asp
XM_011522537.1:c.8261C>A (PKD1)	XP_011520839.1:p.Ala2754Asp
XR_932867.1:n.11276C>A (PKD1)
XR_932868.1:n.11110-378C>A (PKD1)
XR_932869.1:n.11110-378C>A (PKD1)
XR_932870.1:n.11136C>A (PKD1)
XR_933000.1:n.90-323G>T (PKD1-AS1)
XR_933001.1:n.180-323G>T (PKD1-AS1)
XR_933002.1:n.89-323G>T (PKD1-AS1)
XR_933003.1:n.89-323G>T (PKD1-AS1)
NR_135175.1:n.180-323G>T (PKD1-AS1)
XM_005255370.3:c.8138C>A (PKD1)	XP_005255427.1:p.Ala2713Asp
XM_011522528.3:c.11237C>A (PKD1)	XP_011520830.1:p.Ala3746Asp
XM_011522529.2:c.11234C>A (PKD1)	XP_011520831.1:p.Ala3745Asp
XM_011522537.2:c.8261C>A (PKD1)	XP_011520839.1:p.Ala2754Asp
XM_024450298.1:c.11303C>A (PKD1)	XP_024306066.1:p.Ala3768Asp
XM_024450299.1:c.11231C>A (PKD1)	XP_024306067.1:p.Ala3744Asp
XM_024450300.1:c.11093C>A (PKD1)	XP_024306068.1:p.Ala3698Asp
XM_024450301.1:c.9179C>A (PKD1)	XP_024306069.1:p.Ala3060Asp
NM_000296.4:c.11180C>A (PKD1)	NP_000287.4:p.Ala3727Asp
NM_001009944.3:c.11183C>A (PKD1) MANE Select	NP_001009944.3:p.Ala3728Asp