Canonical Allele Identifier: CA394336555

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092591-A-T
• MyVariant Identifiers: chr16:g.2142592A>T (hg19) ; chr16:g.2092591A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092591A>T , CM000678.2:g.2092591A>T	GRCh38
NC_000016.9:g.2142592A>T , CM000678.1:g.2142592A>T	GRCh37
NC_000016.8:g.2082593A>T	NCBI36
NG_008617.1:g.50630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11158T>A (PKD1) MANE Select	ENSP00000262304.4:p.Ser3720Thr
ENST00000262304.8:c.11158T>A (PKD1)	ENSP00000262304.4:p.Ser3720Thr
ENST00000423118.5:c.11155T>A (PKD1)	ENSP00000399501.1:p.Ser3719Thr
ENST00000485120.1:n.7T>A (PKD1)
ENST00000487932.5:c.5720T>A (PKD1)	ENSP00000457132.1:n.5720T>A
ENST00000562425.1:c.271T>A (PKD1)
ENST00000567355.1:n.321T>A (PKD1)
NM_000296.3:c.11155T>A (PKD1)	NP_000287.3:p.Ser3719Thr
NM_001009944.2:c.11158T>A (PKD1)	NP_001009944.2:p.Ser3720Thr
XM_005255370.2:c.8113T>A (PKD1)	XP_005255427.1:p.Ser2705Thr
XM_011522525.1:c.11236T>A (PKD1)	XP_011520827.1:p.Ser3746Thr
XM_011522526.1:c.11233T>A (PKD1)	XP_011520828.1:p.Ser3745Thr
XM_011522527.1:c.11218T>A (PKD1)	XP_011520829.1:p.Ser3740Thr
XM_011522528.1:c.11212T>A (PKD1)	XP_011520830.1:p.Ser3738Thr
XM_011522529.1:c.11209T>A (PKD1)	XP_011520831.1:p.Ser3737Thr
XM_011522530.1:c.11182T>A (PKD1)	XP_011520832.1:p.Ser3728Thr
XM_011522531.1:c.11164T>A (PKD1)	XP_011520833.1:p.Ser3722Thr
XM_011522532.1:c.11110T>A (PKD1)	XP_011520834.1:p.Ser3704Thr
XM_011522533.1:c.11029T>A (PKD1)	XP_011520835.1:p.Ser3677Thr
XM_011522534.1:c.10972T>A (PKD1)	XP_011520836.1:p.Ser3658Thr
XM_011522535.1:c.9058T>A (PKD1)	XP_011520837.1:p.Ser3020Thr
XM_011522537.1:c.8236T>A (PKD1)	XP_011520839.1:p.Ser2746Thr
XR_932867.1:n.11251T>A (PKD1)
XR_932868.1:n.11110-403T>A (PKD1)
XR_932869.1:n.11110-403T>A (PKD1)
XR_932870.1:n.11111T>A (PKD1)
XR_933000.1:n.90-298A>T (PKD1-AS1)
XR_933001.1:n.180-298A>T (PKD1-AS1)
XR_933002.1:n.89-298A>T (PKD1-AS1)
XR_933003.1:n.89-298A>T (PKD1-AS1)
NR_135175.1:n.180-298A>T (PKD1-AS1)
XM_005255370.3:c.8113T>A (PKD1)	XP_005255427.1:p.Ser2705Thr
XM_011522528.3:c.11212T>A (PKD1)	XP_011520830.1:p.Ser3738Thr
XM_011522529.2:c.11209T>A (PKD1)	XP_011520831.1:p.Ser3737Thr
XM_011522537.2:c.8236T>A (PKD1)	XP_011520839.1:p.Ser2746Thr
XM_024450298.1:c.11278T>A (PKD1)	XP_024306066.1:p.Ser3760Thr
XM_024450299.1:c.11206T>A (PKD1)	XP_024306067.1:p.Ser3736Thr
XM_024450300.1:c.11068T>A (PKD1)	XP_024306068.1:p.Ser3690Thr
XM_024450301.1:c.9154T>A (PKD1)	XP_024306069.1:p.Ser3052Thr
NM_000296.4:c.11155T>A (PKD1)	NP_000287.4:p.Ser3719Thr
NM_001009944.3:c.11158T>A (PKD1) MANE Select	NP_001009944.3:p.Ser3720Thr