Canonical Allele Identifier: CA394336553

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142591G>T (hg19) ; chr16:g.2092590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092590G>T , CM000678.2:g.2092590G>T	GRCh38
NC_000016.9:g.2142591G>T , CM000678.1:g.2142591G>T	GRCh37
NC_000016.8:g.2082592G>T	NCBI36
NG_008617.1:g.50631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11159C>A (PKD1) MANE Select	ENSP00000262304.4:p.Ser3720Tyr
ENST00000262304.8:c.11159C>A (PKD1)	ENSP00000262304.4:p.Ser3720Tyr
ENST00000423118.5:c.11156C>A (PKD1)	ENSP00000399501.1:p.Ser3719Tyr
ENST00000485120.1:n.8C>A (PKD1)
ENST00000487932.5:c.5721C>A (PKD1)	ENSP00000457132.1:n.5721C>A
ENST00000562425.1:c.272C>A (PKD1)
ENST00000567355.1:n.322C>A (PKD1)
NM_000296.3:c.11156C>A (PKD1)	NP_000287.3:p.Ser3719Tyr
NM_001009944.2:c.11159C>A (PKD1)	NP_001009944.2:p.Ser3720Tyr
XM_005255370.2:c.8114C>A (PKD1)	XP_005255427.1:p.Ser2705Tyr
XM_011522525.1:c.11237C>A (PKD1)	XP_011520827.1:p.Ser3746Tyr
XM_011522526.1:c.11234C>A (PKD1)	XP_011520828.1:p.Ser3745Tyr
XM_011522527.1:c.11219C>A (PKD1)	XP_011520829.1:p.Ser3740Tyr
XM_011522528.1:c.11213C>A (PKD1)	XP_011520830.1:p.Ser3738Tyr
XM_011522529.1:c.11210C>A (PKD1)	XP_011520831.1:p.Ser3737Tyr
XM_011522530.1:c.11183C>A (PKD1)	XP_011520832.1:p.Ser3728Tyr
XM_011522531.1:c.11165C>A (PKD1)	XP_011520833.1:p.Ser3722Tyr
XM_011522532.1:c.11111C>A (PKD1)	XP_011520834.1:p.Ser3704Tyr
XM_011522533.1:c.11030C>A (PKD1)	XP_011520835.1:p.Ser3677Tyr
XM_011522534.1:c.10973C>A (PKD1)	XP_011520836.1:p.Ser3658Tyr
XM_011522535.1:c.9059C>A (PKD1)	XP_011520837.1:p.Ser3020Tyr
XM_011522537.1:c.8237C>A (PKD1)	XP_011520839.1:p.Ser2746Tyr
XR_932867.1:n.11252C>A (PKD1)
XR_932868.1:n.11110-402C>A (PKD1)
XR_932869.1:n.11110-402C>A (PKD1)
XR_932870.1:n.11112C>A (PKD1)
XR_933000.1:n.90-299G>T (PKD1-AS1)
XR_933001.1:n.180-299G>T (PKD1-AS1)
XR_933002.1:n.89-299G>T (PKD1-AS1)
XR_933003.1:n.89-299G>T (PKD1-AS1)
NR_135175.1:n.180-299G>T (PKD1-AS1)
XM_005255370.3:c.8114C>A (PKD1)	XP_005255427.1:p.Ser2705Tyr
XM_011522528.3:c.11213C>A (PKD1)	XP_011520830.1:p.Ser3738Tyr
XM_011522529.2:c.11210C>A (PKD1)	XP_011520831.1:p.Ser3737Tyr
XM_011522537.2:c.8237C>A (PKD1)	XP_011520839.1:p.Ser2746Tyr
XM_024450298.1:c.11279C>A (PKD1)	XP_024306066.1:p.Ser3760Tyr
XM_024450299.1:c.11207C>A (PKD1)	XP_024306067.1:p.Ser3736Tyr
XM_024450300.1:c.11069C>A (PKD1)	XP_024306068.1:p.Ser3690Tyr
XM_024450301.1:c.9155C>A (PKD1)	XP_024306069.1:p.Ser3052Tyr
NM_000296.4:c.11156C>A (PKD1)	NP_000287.4:p.Ser3719Tyr
NM_001009944.3:c.11159C>A (PKD1) MANE Select	NP_001009944.3:p.Ser3720Tyr