Canonical Allele Identifier: CA394341555

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs2091738105
• gnomAD v4: 16-2094139-G-A
• MyVariant Identifiers: chr16:g.2144140G>A (hg19) ; chr16:g.2094139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094139G>A , CM000678.2:g.2094139G>A	GRCh38
NC_000016.9:g.2144140G>A , CM000678.1:g.2144140G>A	GRCh37
NC_000016.8:g.2084141G>A	NCBI36
NG_008617.1:g.49082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10571C>T (PKD1) MANE Select	ENSP00000262304.4:p.Pro3524Leu
ENST00000262304.8:c.10571C>T (PKD1)	ENSP00000262304.4:p.Pro3524Leu
ENST00000423118.5:c.10568C>T (PKD1)	ENSP00000399501.1:p.Pro3523Leu
ENST00000472659.1:n.8C>T (PKD1)
ENST00000487932.5:c.5133C>T (PKD1)	ENSP00000457132.1:n.5133C>T
NM_000296.3:c.10568C>T (PKD1)	NP_000287.3:p.Pro3523Leu
NM_001009944.2:c.10571C>T (PKD1)	NP_001009944.2:p.Pro3524Leu
XM_005255370.2:c.7526C>T (PKD1)	XP_005255427.1:p.Pro2509Leu
XM_011522525.1:c.10649C>T (PKD1)	XP_011520827.1:p.Pro3550Leu
XM_011522526.1:c.10646C>T (PKD1)	XP_011520828.1:p.Pro3549Leu
XM_011522527.1:c.10631C>T (PKD1)	XP_011520829.1:p.Pro3544Leu
XM_011522528.1:c.10625C>T (PKD1)	XP_011520830.1:p.Pro3542Leu
XM_011522529.1:c.10622C>T (PKD1)	XP_011520831.1:p.Pro3541Leu
XM_011522530.1:c.10595C>T (PKD1)	XP_011520832.1:p.Pro3532Leu
XM_011522531.1:c.10577C>T (PKD1)	XP_011520833.1:p.Pro3526Leu
XM_011522532.1:c.10523C>T (PKD1)	XP_011520834.1:p.Pro3508Leu
XM_011522533.1:c.10442C>T (PKD1)	XP_011520835.1:p.Pro3481Leu
XM_011522534.1:c.10385C>T (PKD1)	XP_011520836.1:p.Pro3462Leu
XM_011522535.1:c.8471C>T (PKD1)	XP_011520837.1:p.Pro2824Leu
XM_011522537.1:c.7649C>T (PKD1)	XP_011520839.1:p.Pro2550Leu
XR_932867.1:n.10664C>T (PKD1)
XR_932868.1:n.10664C>T (PKD1)
XR_932869.1:n.10664C>T (PKD1)
XR_932870.1:n.10664C>T (PKD1)
XR_933000.1:n.214-539G>A (PKD1-AS1)
XR_933001.1:n.304-582G>A (PKD1-AS1)
XR_933002.1:n.213-539G>A (PKD1-AS1)
XR_933003.1:n.213-582G>A (PKD1-AS1)
NR_135175.1:n.304-582G>A (PKD1-AS1)
XM_005255370.3:c.7526C>T (PKD1)	XP_005255427.1:p.Pro2509Leu
XM_011522528.3:c.10625C>T (PKD1)	XP_011520830.1:p.Pro3542Leu
XM_011522529.2:c.10622C>T (PKD1)	XP_011520831.1:p.Pro3541Leu
XM_011522537.2:c.7649C>T (PKD1)	XP_011520839.1:p.Pro2550Leu
XM_024450298.1:c.10691C>T (PKD1)	XP_024306066.1:p.Pro3564Leu
XM_024450299.1:c.10619C>T (PKD1)	XP_024306067.1:p.Pro3540Leu
XM_024450300.1:c.10481C>T (PKD1)	XP_024306068.1:p.Pro3494Leu
XM_024450301.1:c.8567C>T (PKD1)	XP_024306069.1:p.Pro2856Leu
NM_000296.4:c.10568C>T (PKD1)	NP_000287.4:p.Pro3523Leu
NM_001009944.3:c.10571C>T (PKD1) MANE Select	NP_001009944.3:p.Pro3524Leu