Canonical Allele Identifier: CA394336557

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142592A>G (hg19) ; chr16:g.2092591A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11158T>C (PKD1) MANE Select	ENSP00000262304.4:p.Ser3720Pro
ENST00000262304.8:c.11158T>C (PKD1)	ENSP00000262304.4:p.Ser3720Pro
ENST00000423118.5:c.11155T>C (PKD1)	ENSP00000399501.1:p.Ser3719Pro
ENST00000485120.1:n.7T>C (PKD1)
ENST00000487932.5:c.5720T>C (PKD1)	ENSP00000457132.1:n.5720T>C
ENST00000562425.1:c.271T>C (PKD1)
ENST00000567355.1:n.321T>C (PKD1)
NM_000296.3:c.11155T>C (PKD1)	NP_000287.3:p.Ser3719Pro
NM_001009944.2:c.11158T>C (PKD1)	NP_001009944.2:p.Ser3720Pro
XM_005255370.2:c.8113T>C (PKD1)	XP_005255427.1:p.Ser2705Pro
XM_011522525.1:c.11236T>C (PKD1)	XP_011520827.1:p.Ser3746Pro
XM_011522526.1:c.11233T>C (PKD1)	XP_011520828.1:p.Ser3745Pro
XM_011522527.1:c.11218T>C (PKD1)	XP_011520829.1:p.Ser3740Pro
XM_011522528.1:c.11212T>C (PKD1)	XP_011520830.1:p.Ser3738Pro
XM_011522529.1:c.11209T>C (PKD1)	XP_011520831.1:p.Ser3737Pro
XM_011522530.1:c.11182T>C (PKD1)	XP_011520832.1:p.Ser3728Pro
XM_011522531.1:c.11164T>C (PKD1)	XP_011520833.1:p.Ser3722Pro
XM_011522532.1:c.11110T>C (PKD1)	XP_011520834.1:p.Ser3704Pro
XM_011522533.1:c.11029T>C (PKD1)	XP_011520835.1:p.Ser3677Pro
XM_011522534.1:c.10972T>C (PKD1)	XP_011520836.1:p.Ser3658Pro
XM_011522535.1:c.9058T>C (PKD1)	XP_011520837.1:p.Ser3020Pro
XM_011522537.1:c.8236T>C (PKD1)	XP_011520839.1:p.Ser2746Pro
XR_932867.1:n.11251T>C (PKD1)
XR_932868.1:n.11110-403T>C (PKD1)
XR_932869.1:n.11110-403T>C (PKD1)
XR_932870.1:n.11111T>C (PKD1)
XR_933000.1:n.90-298A>G (PKD1-AS1)
XR_933001.1:n.180-298A>G (PKD1-AS1)
XR_933002.1:n.89-298A>G (PKD1-AS1)
XR_933003.1:n.89-298A>G (PKD1-AS1)
NR_135175.1:n.180-298A>G (PKD1-AS1)
XM_005255370.3:c.8113T>C (PKD1)	XP_005255427.1:p.Ser2705Pro
XM_011522528.3:c.11212T>C (PKD1)	XP_011520830.1:p.Ser3738Pro
XM_011522529.2:c.11209T>C (PKD1)	XP_011520831.1:p.Ser3737Pro
XM_011522537.2:c.8236T>C (PKD1)	XP_011520839.1:p.Ser2746Pro
XM_024450298.1:c.11278T>C (PKD1)	XP_024306066.1:p.Ser3760Pro
XM_024450299.1:c.11206T>C (PKD1)	XP_024306067.1:p.Ser3736Pro
XM_024450300.1:c.11068T>C (PKD1)	XP_024306068.1:p.Ser3690Pro
XM_024450301.1:c.9154T>C (PKD1)	XP_024306069.1:p.Ser3052Pro
NM_000296.4:c.11155T>C (PKD1)	NP_000287.4:p.Ser3719Pro
NM_001009944.3:c.11158T>C (PKD1) MANE Select	NP_001009944.3:p.Ser3720Pro