Canonical Allele Identifier: CA394336531

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs2091646137
• gnomAD v3: 16-2092584-T-G
• gnomAD v4: 16-2092584-T-G
• MyVariant Identifiers: chr16:g.2142585T>G (hg19) ; chr16:g.2092584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092584T>G , CM000678.2:g.2092584T>G	GRCh38
NC_000016.9:g.2142585T>G , CM000678.1:g.2142585T>G	GRCh37
NC_000016.8:g.2082586T>G	NCBI36
NG_008617.1:g.50637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11165A>C (PKD1) MANE Select	ENSP00000262304.4:p.Glu3722Ala
ENST00000262304.8:c.11165A>C (PKD1)	ENSP00000262304.4:p.Glu3722Ala
ENST00000423118.5:c.11162A>C (PKD1)	ENSP00000399501.1:p.Glu3721Ala
ENST00000485120.1:n.14A>C (PKD1)
ENST00000487932.5:c.5727A>C (PKD1)	ENSP00000457132.1:n.5727A>C
ENST00000562425.1:c.278A>C (PKD1)
ENST00000567355.1:n.328A>C (PKD1)
NM_000296.3:c.11162A>C (PKD1)	NP_000287.3:p.Glu3721Ala
NM_001009944.2:c.11165A>C (PKD1)	NP_001009944.2:p.Glu3722Ala
XM_005255370.2:c.8120A>C (PKD1)	XP_005255427.1:p.Glu2707Ala
XM_011522525.1:c.11243A>C (PKD1)	XP_011520827.1:p.Glu3748Ala
XM_011522526.1:c.11240A>C (PKD1)	XP_011520828.1:p.Glu3747Ala
XM_011522527.1:c.11225A>C (PKD1)	XP_011520829.1:p.Glu3742Ala
XM_011522528.1:c.11219A>C (PKD1)	XP_011520830.1:p.Glu3740Ala
XM_011522529.1:c.11216A>C (PKD1)	XP_011520831.1:p.Glu3739Ala
XM_011522530.1:c.11189A>C (PKD1)	XP_011520832.1:p.Glu3730Ala
XM_011522531.1:c.11171A>C (PKD1)	XP_011520833.1:p.Glu3724Ala
XM_011522532.1:c.11117A>C (PKD1)	XP_011520834.1:p.Glu3706Ala
XM_011522533.1:c.11036A>C (PKD1)	XP_011520835.1:p.Glu3679Ala
XM_011522534.1:c.10979A>C (PKD1)	XP_011520836.1:p.Glu3660Ala
XM_011522535.1:c.9065A>C (PKD1)	XP_011520837.1:p.Glu3022Ala
XM_011522537.1:c.8243A>C (PKD1)	XP_011520839.1:p.Glu2748Ala
XR_932867.1:n.11258A>C (PKD1)
XR_932868.1:n.11110-396A>C (PKD1)
XR_932869.1:n.11110-396A>C (PKD1)
XR_932870.1:n.11118A>C (PKD1)
XR_933000.1:n.90-305T>G (PKD1-AS1)
XR_933001.1:n.180-305T>G (PKD1-AS1)
XR_933002.1:n.89-305T>G (PKD1-AS1)
XR_933003.1:n.89-305T>G (PKD1-AS1)
NR_135175.1:n.180-305T>G (PKD1-AS1)
XM_005255370.3:c.8120A>C (PKD1)	XP_005255427.1:p.Glu2707Ala
XM_011522528.3:c.11219A>C (PKD1)	XP_011520830.1:p.Glu3740Ala
XM_011522529.2:c.11216A>C (PKD1)	XP_011520831.1:p.Glu3739Ala
XM_011522537.2:c.8243A>C (PKD1)	XP_011520839.1:p.Glu2748Ala
XM_024450298.1:c.11285A>C (PKD1)	XP_024306066.1:p.Glu3762Ala
XM_024450299.1:c.11213A>C (PKD1)	XP_024306067.1:p.Glu3738Ala
XM_024450300.1:c.11075A>C (PKD1)	XP_024306068.1:p.Glu3692Ala
XM_024450301.1:c.9161A>C (PKD1)	XP_024306069.1:p.Glu3054Ala
NM_000296.4:c.11162A>C (PKD1)	NP_000287.4:p.Glu3721Ala
NM_001009944.3:c.11165A>C (PKD1) MANE Select	NP_001009944.3:p.Glu3722Ala