Canonical Allele Identifier: CA394336474

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092575-G-A
• MyVariant Identifiers: chr16:g.2142576G>A (hg19) ; chr16:g.2092575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092575G>A , CM000678.2:g.2092575G>A	GRCh38
NC_000016.9:g.2142576G>A , CM000678.1:g.2142576G>A	GRCh37
NC_000016.8:g.2082577G>A	NCBI36
NG_008617.1:g.50646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11174C>T (PKD1) MANE Select	ENSP00000262304.4:p.Pro3725Leu
ENST00000262304.8:c.11174C>T (PKD1)	ENSP00000262304.4:p.Pro3725Leu
ENST00000423118.5:c.11171C>T (PKD1)	ENSP00000399501.1:p.Pro3724Leu
ENST00000485120.1:n.23C>T (PKD1)
ENST00000487932.5:c.5736C>T (PKD1)	ENSP00000457132.1:n.5736C>T
ENST00000562425.1:c.287C>T (PKD1)
ENST00000567355.1:n.337C>T (PKD1)
NM_000296.3:c.11171C>T (PKD1)	NP_000287.3:p.Pro3724Leu
NM_001009944.2:c.11174C>T (PKD1)	NP_001009944.2:p.Pro3725Leu
XM_005255370.2:c.8129C>T (PKD1)	XP_005255427.1:p.Pro2710Leu
XM_011522525.1:c.11252C>T (PKD1)	XP_011520827.1:p.Pro3751Leu
XM_011522526.1:c.11249C>T (PKD1)	XP_011520828.1:p.Pro3750Leu
XM_011522527.1:c.11234C>T (PKD1)	XP_011520829.1:p.Pro3745Leu
XM_011522528.1:c.11228C>T (PKD1)	XP_011520830.1:p.Pro3743Leu
XM_011522529.1:c.11225C>T (PKD1)	XP_011520831.1:p.Pro3742Leu
XM_011522530.1:c.11198C>T (PKD1)	XP_011520832.1:p.Pro3733Leu
XM_011522531.1:c.11180C>T (PKD1)	XP_011520833.1:p.Pro3727Leu
XM_011522532.1:c.11126C>T (PKD1)	XP_011520834.1:p.Pro3709Leu
XM_011522533.1:c.11045C>T (PKD1)	XP_011520835.1:p.Pro3682Leu
XM_011522534.1:c.10988C>T (PKD1)	XP_011520836.1:p.Pro3663Leu
XM_011522535.1:c.9074C>T (PKD1)	XP_011520837.1:p.Pro3025Leu
XM_011522537.1:c.8252C>T (PKD1)	XP_011520839.1:p.Pro2751Leu
XR_932867.1:n.11267C>T (PKD1)
XR_932868.1:n.11110-387C>T (PKD1)
XR_932869.1:n.11110-387C>T (PKD1)
XR_932870.1:n.11127C>T (PKD1)
XR_933000.1:n.90-314G>A (PKD1-AS1)
XR_933001.1:n.180-314G>A (PKD1-AS1)
XR_933002.1:n.89-314G>A (PKD1-AS1)
XR_933003.1:n.89-314G>A (PKD1-AS1)
NR_135175.1:n.180-314G>A (PKD1-AS1)
XM_005255370.3:c.8129C>T (PKD1)	XP_005255427.1:p.Pro2710Leu
XM_011522528.3:c.11228C>T (PKD1)	XP_011520830.1:p.Pro3743Leu
XM_011522529.2:c.11225C>T (PKD1)	XP_011520831.1:p.Pro3742Leu
XM_011522537.2:c.8252C>T (PKD1)	XP_011520839.1:p.Pro2751Leu
XM_024450298.1:c.11294C>T (PKD1)	XP_024306066.1:p.Pro3765Leu
XM_024450299.1:c.11222C>T (PKD1)	XP_024306067.1:p.Pro3741Leu
XM_024450300.1:c.11084C>T (PKD1)	XP_024306068.1:p.Pro3695Leu
XM_024450301.1:c.9170C>T (PKD1)	XP_024306069.1:p.Pro3057Leu
NM_000296.4:c.11171C>T (PKD1)	NP_000287.4:p.Pro3724Leu
NM_001009944.3:c.11174C>T (PKD1) MANE Select	NP_001009944.3:p.Pro3725Leu