Canonical Allele Identifier: CA394336507

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1486348532
• gnomAD v2: 16-2142583-G-A
• gnomAD v4: 16-2092582-G-A
• MyVariant Identifiers: chr16:g.2142583G>A (hg19) ; chr16:g.2092582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092582G>A , CM000678.2:g.2092582G>A	GRCh38
NC_000016.9:g.2142583G>A , CM000678.1:g.2142583G>A	GRCh37
NC_000016.8:g.2082584G>A	NCBI36
NG_008617.1:g.50639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11167C>T (PKD1) MANE Select	ENSP00000262304.4:p.Leu3723Phe
ENST00000262304.8:c.11167C>T (PKD1)	ENSP00000262304.4:p.Leu3723Phe
ENST00000423118.5:c.11164C>T (PKD1)	ENSP00000399501.1:p.Leu3722Phe
ENST00000485120.1:n.16C>T (PKD1)
ENST00000487932.5:c.5729C>T (PKD1)	ENSP00000457132.1:n.5729C>T
ENST00000562425.1:c.280C>T (PKD1)
ENST00000567355.1:n.330C>T (PKD1)
NM_000296.3:c.11164C>T (PKD1)	NP_000287.3:p.Leu3722Phe
NM_001009944.2:c.11167C>T (PKD1)	NP_001009944.2:p.Leu3723Phe
XM_005255370.2:c.8122C>T (PKD1)	XP_005255427.1:p.Leu2708Phe
XM_011522525.1:c.11245C>T (PKD1)	XP_011520827.1:p.Leu3749Phe
XM_011522526.1:c.11242C>T (PKD1)	XP_011520828.1:p.Leu3748Phe
XM_011522527.1:c.11227C>T (PKD1)	XP_011520829.1:p.Leu3743Phe
XM_011522528.1:c.11221C>T (PKD1)	XP_011520830.1:p.Leu3741Phe
XM_011522529.1:c.11218C>T (PKD1)	XP_011520831.1:p.Leu3740Phe
XM_011522530.1:c.11191C>T (PKD1)	XP_011520832.1:p.Leu3731Phe
XM_011522531.1:c.11173C>T (PKD1)	XP_011520833.1:p.Leu3725Phe
XM_011522532.1:c.11119C>T (PKD1)	XP_011520834.1:p.Leu3707Phe
XM_011522533.1:c.11038C>T (PKD1)	XP_011520835.1:p.Leu3680Phe
XM_011522534.1:c.10981C>T (PKD1)	XP_011520836.1:p.Leu3661Phe
XM_011522535.1:c.9067C>T (PKD1)	XP_011520837.1:p.Leu3023Phe
XM_011522537.1:c.8245C>T (PKD1)	XP_011520839.1:p.Leu2749Phe
XR_932867.1:n.11260C>T (PKD1)
XR_932868.1:n.11110-394C>T (PKD1)
XR_932869.1:n.11110-394C>T (PKD1)
XR_932870.1:n.11120C>T (PKD1)
XR_933000.1:n.90-307G>A (PKD1-AS1)
XR_933001.1:n.180-307G>A (PKD1-AS1)
XR_933002.1:n.89-307G>A (PKD1-AS1)
XR_933003.1:n.89-307G>A (PKD1-AS1)
NR_135175.1:n.180-307G>A (PKD1-AS1)
XM_005255370.3:c.8122C>T (PKD1)	XP_005255427.1:p.Leu2708Phe
XM_011522528.3:c.11221C>T (PKD1)	XP_011520830.1:p.Leu3741Phe
XM_011522529.2:c.11218C>T (PKD1)	XP_011520831.1:p.Leu3740Phe
XM_011522537.2:c.8245C>T (PKD1)	XP_011520839.1:p.Leu2749Phe
XM_024450298.1:c.11287C>T (PKD1)	XP_024306066.1:p.Leu3763Phe
XM_024450299.1:c.11215C>T (PKD1)	XP_024306067.1:p.Leu3739Phe
XM_024450300.1:c.11077C>T (PKD1)	XP_024306068.1:p.Leu3693Phe
XM_024450301.1:c.9163C>T (PKD1)	XP_024306069.1:p.Leu3055Phe
NM_000296.4:c.11164C>T (PKD1)	NP_000287.4:p.Leu3722Phe
NM_001009944.3:c.11167C>T (PKD1) MANE Select	NP_001009944.3:p.Leu3723Phe