Canonical Allele Identifier: CA394336298

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142546A>G (hg19) ; chr16:g.2092545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092545A>G , CM000678.2:g.2092545A>G	GRCh38
NC_000016.9:g.2142546A>G , CM000678.1:g.2142546A>G	GRCh37
NC_000016.8:g.2082547A>G	NCBI36
NG_008617.1:g.50676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11204T>C (PKD1) MANE Select	ENSP00000262304.4:p.Val3735Ala
ENST00000262304.8:c.11204T>C (PKD1)	ENSP00000262304.4:p.Val3735Ala
ENST00000423118.5:c.11201T>C (PKD1)	ENSP00000399501.1:p.Val3734Ala
ENST00000485120.1:n.53T>C (PKD1)
ENST00000487932.5:c.5766T>C (PKD1)	ENSP00000457132.1:n.5766T>C
ENST00000562425.1:c.317T>C (PKD1)
ENST00000567355.1:n.367T>C (PKD1)
NM_000296.3:c.11201T>C (PKD1)	NP_000287.3:p.Val3734Ala
NM_001009944.2:c.11204T>C (PKD1)	NP_001009944.2:p.Val3735Ala
XM_005255370.2:c.8159T>C (PKD1)	XP_005255427.1:p.Val2720Ala
XM_011522525.1:c.11282T>C (PKD1)	XP_011520827.1:p.Val3761Ala
XM_011522526.1:c.11279T>C (PKD1)	XP_011520828.1:p.Val3760Ala
XM_011522527.1:c.11264T>C (PKD1)	XP_011520829.1:p.Val3755Ala
XM_011522528.1:c.11258T>C (PKD1)	XP_011520830.1:p.Val3753Ala
XM_011522529.1:c.11255T>C (PKD1)	XP_011520831.1:p.Val3752Ala
XM_011522530.1:c.11228T>C (PKD1)	XP_011520832.1:p.Val3743Ala
XM_011522531.1:c.11210T>C (PKD1)	XP_011520833.1:p.Val3737Ala
XM_011522532.1:c.11156T>C (PKD1)	XP_011520834.1:p.Val3719Ala
XM_011522533.1:c.11075T>C (PKD1)	XP_011520835.1:p.Val3692Ala
XM_011522534.1:c.11018T>C (PKD1)	XP_011520836.1:p.Val3673Ala
XM_011522535.1:c.9104T>C (PKD1)	XP_011520837.1:p.Val3035Ala
XM_011522537.1:c.8282T>C (PKD1)	XP_011520839.1:p.Val2761Ala
XR_932867.1:n.11297T>C (PKD1)
XR_932868.1:n.11110-357T>C (PKD1)
XR_932869.1:n.11110-357T>C (PKD1)
XR_932870.1:n.11157T>C (PKD1)
XR_933000.1:n.90-344A>G (PKD1-AS1)
XR_933001.1:n.180-344A>G (PKD1-AS1)
XR_933002.1:n.89-344A>G (PKD1-AS1)
XR_933003.1:n.89-344A>G (PKD1-AS1)
NR_135175.1:n.180-344A>G (PKD1-AS1)
XM_005255370.3:c.8159T>C (PKD1)	XP_005255427.1:p.Val2720Ala
XM_011522528.3:c.11258T>C (PKD1)	XP_011520830.1:p.Val3753Ala
XM_011522529.2:c.11255T>C (PKD1)	XP_011520831.1:p.Val3752Ala
XM_011522537.2:c.8282T>C (PKD1)	XP_011520839.1:p.Val2761Ala
XM_024450298.1:c.11324T>C (PKD1)	XP_024306066.1:p.Val3775Ala
XM_024450299.1:c.11252T>C (PKD1)	XP_024306067.1:p.Val3751Ala
XM_024450300.1:c.11114T>C (PKD1)	XP_024306068.1:p.Val3705Ala
XM_024450301.1:c.9200T>C (PKD1)	XP_024306069.1:p.Val3067Ala
NM_000296.4:c.11201T>C (PKD1)	NP_000287.4:p.Val3734Ala
NM_001009944.3:c.11204T>C (PKD1) MANE Select	NP_001009944.3:p.Val3735Ala