Canonical Allele Identifier: CA394377020

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159720G>T (hg19) ; chr16:g.2109719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109719G>T , CM000678.2:g.2109719G>T	GRCh38
NC_000016.9:g.2159720G>T , CM000678.1:g.2159720G>T	GRCh37
NC_000016.8:g.2099721G>T	NCBI36
NG_008617.1:g.31180C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5448C>A MANE Select	ENSP00000262304.4:p.Phe1816Leu
ENST00000262304.8:c.5448C>A	ENSP00000262304.4:p.Phe1816Leu
ENST00000415938.7:n.310+2621C>A
ENST00000423118.5:c.5448C>A	ENSP00000399501.1:p.Phe1816Leu
ENST00000468674.5:n.431-369C>A
ENST00000483024.1:c.233+2097C>A
ENST00000483731.5:n.790+2621C>A
ENST00000487932.5:c.135C>A	ENSP00000457132.1:p.Phe45Leu
ENST00000488185.2:c.473-1361C>A
ENST00000565639.6:n.773+2621C>A
ENST00000568591.5:c.2226+2621C>A	ENSP00000457162.1:n.2226+2621C>A
ENST00000569983.5:n.421+2621C>A
NM_000296.3:c.5448C>A	NP_000287.3:p.Phe1816Leu
NM_001009944.2:c.5448C>A	NP_001009944.2:p.Phe1816Leu
XM_005255370.2:c.2403C>A	XP_005255427.1:p.Phe801Leu
XM_011522525.1:c.5526C>A	XP_011520827.1:p.Phe1842Leu
XM_011522526.1:c.5526C>A	XP_011520828.1:p.Phe1842Leu
XM_011522527.1:c.5526C>A	XP_011520829.1:p.Phe1842Leu
XM_011522528.1:c.5502C>A	XP_011520830.1:p.Phe1834Leu
XM_011522529.1:c.5502C>A	XP_011520831.1:p.Phe1834Leu
XM_011522530.1:c.5472C>A	XP_011520832.1:p.Phe1824Leu
XM_011522531.1:c.5454C>A	XP_011520833.1:p.Phe1818Leu
XM_011522532.1:c.5400C>A	XP_011520834.1:p.Phe1800Leu
XM_011522533.1:c.5319C>A	XP_011520835.1:p.Phe1773Leu
XM_011522534.1:c.5262C>A	XP_011520836.1:p.Phe1754Leu
XM_011522535.1:c.3348C>A	XP_011520837.1:p.Phe1116Leu
XM_011522536.1:c.5526C>A	XP_011520838.1:p.Phe1842Leu
XM_011522537.1:c.2526C>A	XP_011520839.1:p.Phe842Leu
XR_932867.1:n.5541C>A
XR_932868.1:n.5541C>A
XR_932869.1:n.5541C>A
XR_932870.1:n.5541C>A
XM_005255370.3:c.2403C>A	XP_005255427.1:p.Phe801Leu
XM_011522528.3:c.5502C>A	XP_011520830.1:p.Phe1834Leu
XM_011522529.2:c.5502C>A	XP_011520831.1:p.Phe1834Leu
XM_011522537.2:c.2526C>A	XP_011520839.1:p.Phe842Leu
XM_024450298.1:c.5568C>A	XP_024306066.1:p.Phe1856Leu
XM_024450299.1:c.5496C>A	XP_024306067.1:p.Phe1832Leu
XM_024450300.1:c.5358C>A	XP_024306068.1:p.Phe1786Leu
XM_024450301.1:c.3444C>A	XP_024306069.1:p.Phe1148Leu
NM_000296.4:c.5448C>A	NP_000287.4:p.Phe1816Leu
NM_001009944.3:c.5448C>A MANE Select	NP_001009944.3:p.Phe1816Leu