Canonical Allele Identifier: CA394336176

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 2442651
• ClinVar RCV Id: RCV003149423
• MyVariant Identifiers: chr16:g.2142504A>G (hg19) ; chr16:g.2092503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092503A>G , CM000678.2:g.2092503A>G	GRCh38
NC_000016.9:g.2142504A>G , CM000678.1:g.2142504A>G	GRCh37
NC_000016.8:g.2082505A>G	NCBI36
NG_008617.1:g.50718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11246T>C (PKD1) MANE Select	ENSP00000262304.4:p.Leu3749Pro
ENST00000262304.8:c.11246T>C (PKD1)	ENSP00000262304.4:p.Leu3749Pro
ENST00000423118.5:c.11243T>C (PKD1)	ENSP00000399501.1:p.Leu3748Pro
ENST00000485120.1:n.95T>C (PKD1)
ENST00000487932.5:c.5808T>C (PKD1)	ENSP00000457132.1:n.5808T>C
ENST00000562425.1:c.359T>C (PKD1)
ENST00000567355.1:n.409T>C (PKD1)
NM_000296.3:c.11243T>C (PKD1)	NP_000287.3:p.Leu3748Pro
NM_001009944.2:c.11246T>C (PKD1)	NP_001009944.2:p.Leu3749Pro
XM_005255370.2:c.8201T>C (PKD1)	XP_005255427.1:p.Leu2734Pro
XM_011522525.1:c.11324T>C (PKD1)	XP_011520827.1:p.Leu3775Pro
XM_011522526.1:c.11321T>C (PKD1)	XP_011520828.1:p.Leu3774Pro
XM_011522527.1:c.11306T>C (PKD1)	XP_011520829.1:p.Leu3769Pro
XM_011522528.1:c.11300T>C (PKD1)	XP_011520830.1:p.Leu3767Pro
XM_011522529.1:c.11297T>C (PKD1)	XP_011520831.1:p.Leu3766Pro
XM_011522530.1:c.11270T>C (PKD1)	XP_011520832.1:p.Leu3757Pro
XM_011522531.1:c.11252T>C (PKD1)	XP_011520833.1:p.Leu3751Pro
XM_011522532.1:c.11198T>C (PKD1)	XP_011520834.1:p.Leu3733Pro
XM_011522533.1:c.11117T>C (PKD1)	XP_011520835.1:p.Leu3706Pro
XM_011522534.1:c.11060T>C (PKD1)	XP_011520836.1:p.Leu3687Pro
XM_011522535.1:c.9146T>C (PKD1)	XP_011520837.1:p.Leu3049Pro
XM_011522537.1:c.8324T>C (PKD1)	XP_011520839.1:p.Leu2775Pro
XR_932867.1:n.11339T>C (PKD1)
XR_932868.1:n.11110-315T>C (PKD1)
XR_932869.1:n.11110-315T>C (PKD1)
XR_932870.1:n.11199T>C (PKD1)
XR_933000.1:n.90-386A>G (PKD1-AS1)
XR_933001.1:n.180-386A>G (PKD1-AS1)
XR_933002.1:n.89-386A>G (PKD1-AS1)
XR_933003.1:n.89-386A>G (PKD1-AS1)
NR_135175.1:n.180-386A>G (PKD1-AS1)
XM_005255370.3:c.8201T>C (PKD1)	XP_005255427.1:p.Leu2734Pro
XM_011522528.3:c.11300T>C (PKD1)	XP_011520830.1:p.Leu3767Pro
XM_011522529.2:c.11297T>C (PKD1)	XP_011520831.1:p.Leu3766Pro
XM_011522537.2:c.8324T>C (PKD1)	XP_011520839.1:p.Leu2775Pro
XM_024450298.1:c.11366T>C (PKD1)	XP_024306066.1:p.Leu3789Pro
XM_024450299.1:c.11294T>C (PKD1)	XP_024306067.1:p.Leu3765Pro
XM_024450300.1:c.11156T>C (PKD1)	XP_024306068.1:p.Leu3719Pro
XM_024450301.1:c.9242T>C (PKD1)	XP_024306069.1:p.Leu3081Pro
NM_000296.4:c.11243T>C (PKD1)	NP_000287.4:p.Leu3748Pro
NM_001009944.3:c.11246T>C (PKD1) MANE Select	NP_001009944.3:p.Leu3749Pro