Canonical Allele Identifier: CA394336472

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142576G>T (hg19) ; chr16:g.2092575G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11174C>A (PKD1) MANE Select	ENSP00000262304.4:p.Pro3725Gln
ENST00000262304.8:c.11174C>A (PKD1)	ENSP00000262304.4:p.Pro3725Gln
ENST00000423118.5:c.11171C>A (PKD1)	ENSP00000399501.1:p.Pro3724Gln
ENST00000485120.1:n.23C>A (PKD1)
ENST00000487932.5:c.5736C>A (PKD1)	ENSP00000457132.1:n.5736C>A
ENST00000562425.1:c.287C>A (PKD1)
ENST00000567355.1:n.337C>A (PKD1)
NM_000296.3:c.11171C>A (PKD1)	NP_000287.3:p.Pro3724Gln
NM_001009944.2:c.11174C>A (PKD1)	NP_001009944.2:p.Pro3725Gln
XM_005255370.2:c.8129C>A (PKD1)	XP_005255427.1:p.Pro2710Gln
XM_011522525.1:c.11252C>A (PKD1)	XP_011520827.1:p.Pro3751Gln
XM_011522526.1:c.11249C>A (PKD1)	XP_011520828.1:p.Pro3750Gln
XM_011522527.1:c.11234C>A (PKD1)	XP_011520829.1:p.Pro3745Gln
XM_011522528.1:c.11228C>A (PKD1)	XP_011520830.1:p.Pro3743Gln
XM_011522529.1:c.11225C>A (PKD1)	XP_011520831.1:p.Pro3742Gln
XM_011522530.1:c.11198C>A (PKD1)	XP_011520832.1:p.Pro3733Gln
XM_011522531.1:c.11180C>A (PKD1)	XP_011520833.1:p.Pro3727Gln
XM_011522532.1:c.11126C>A (PKD1)	XP_011520834.1:p.Pro3709Gln
XM_011522533.1:c.11045C>A (PKD1)	XP_011520835.1:p.Pro3682Gln
XM_011522534.1:c.10988C>A (PKD1)	XP_011520836.1:p.Pro3663Gln
XM_011522535.1:c.9074C>A (PKD1)	XP_011520837.1:p.Pro3025Gln
XM_011522537.1:c.8252C>A (PKD1)	XP_011520839.1:p.Pro2751Gln
XR_932867.1:n.11267C>A (PKD1)
XR_932868.1:n.11110-387C>A (PKD1)
XR_932869.1:n.11110-387C>A (PKD1)
XR_932870.1:n.11127C>A (PKD1)
XR_933000.1:n.90-314G>T (PKD1-AS1)
XR_933001.1:n.180-314G>T (PKD1-AS1)
XR_933002.1:n.89-314G>T (PKD1-AS1)
XR_933003.1:n.89-314G>T (PKD1-AS1)
NR_135175.1:n.180-314G>T (PKD1-AS1)
XM_005255370.3:c.8129C>A (PKD1)	XP_005255427.1:p.Pro2710Gln
XM_011522528.3:c.11228C>A (PKD1)	XP_011520830.1:p.Pro3743Gln
XM_011522529.2:c.11225C>A (PKD1)	XP_011520831.1:p.Pro3742Gln
XM_011522537.2:c.8252C>A (PKD1)	XP_011520839.1:p.Pro2751Gln
XM_024450298.1:c.11294C>A (PKD1)	XP_024306066.1:p.Pro3765Gln
XM_024450299.1:c.11222C>A (PKD1)	XP_024306067.1:p.Pro3741Gln
XM_024450300.1:c.11084C>A (PKD1)	XP_024306068.1:p.Pro3695Gln
XM_024450301.1:c.9170C>A (PKD1)	XP_024306069.1:p.Pro3057Gln
NM_000296.4:c.11171C>A (PKD1)	NP_000287.4:p.Pro3724Gln
NM_001009944.3:c.11174C>A (PKD1) MANE Select	NP_001009944.3:p.Pro3725Gln