Canonical Allele Identifier: CA394376441

Gene: PKD1

Linked Data

• gnomAD v4: 16-2109630-C-A
• MyVariant Identifiers: chr16:g.2159631C>A (hg19) ; chr16:g.2109630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109630C>A , CM000678.2:g.2109630C>A	GRCh38
NC_000016.9:g.2159631C>A , CM000678.1:g.2159631C>A	GRCh37
NC_000016.8:g.2099632C>A	NCBI36
NG_008617.1:g.31269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5537G>T MANE Select	ENSP00000262304.4:p.Ser1846Ile
ENST00000262304.8:c.5537G>T	ENSP00000262304.4:p.Ser1846Ile
ENST00000415938.7:n.311-2682G>T
ENST00000423118.5:c.5537G>T	ENSP00000399501.1:p.Ser1846Ile
ENST00000468674.5:n.431-280G>T
ENST00000483024.1:c.233+2186G>T
ENST00000483731.5:n.791-2682G>T
ENST00000487932.5:c.224G>T	ENSP00000457132.1:p.Ser75Ile
ENST00000488185.2:c.473-1272G>T
ENST00000565639.6:n.774-2682G>T
ENST00000568591.5:c.2227-2682G>T	ENSP00000457162.1:n.2227-2682G>T
ENST00000569983.5:n.422-2682G>T
NM_000296.3:c.5537G>T	NP_000287.3:p.Ser1846Ile
NM_001009944.2:c.5537G>T	NP_001009944.2:p.Ser1846Ile
XM_005255370.2:c.2492G>T	XP_005255427.1:p.Ser831Ile
XM_011522525.1:c.5615G>T	XP_011520827.1:p.Ser1872Ile
XM_011522526.1:c.5615G>T	XP_011520828.1:p.Ser1872Ile
XM_011522527.1:c.5615G>T	XP_011520829.1:p.Ser1872Ile
XM_011522528.1:c.5591G>T	XP_011520830.1:p.Ser1864Ile
XM_011522529.1:c.5591G>T	XP_011520831.1:p.Ser1864Ile
XM_011522530.1:c.5561G>T	XP_011520832.1:p.Ser1854Ile
XM_011522531.1:c.5543G>T	XP_011520833.1:p.Ser1848Ile
XM_011522532.1:c.5489G>T	XP_011520834.1:p.Ser1830Ile
XM_011522533.1:c.5408G>T	XP_011520835.1:p.Ser1803Ile
XM_011522534.1:c.5351G>T	XP_011520836.1:p.Ser1784Ile
XM_011522535.1:c.3437G>T	XP_011520837.1:p.Ser1146Ile
XM_011522536.1:c.5615G>T	XP_011520838.1:p.Ser1872Ile
XM_011522537.1:c.2615G>T	XP_011520839.1:p.Ser872Ile
XR_932867.1:n.5630G>T
XR_932868.1:n.5630G>T
XR_932869.1:n.5630G>T
XR_932870.1:n.5630G>T
XM_005255370.3:c.2492G>T	XP_005255427.1:p.Ser831Ile
XM_011522528.3:c.5591G>T	XP_011520830.1:p.Ser1864Ile
XM_011522529.2:c.5591G>T	XP_011520831.1:p.Ser1864Ile
XM_011522537.2:c.2615G>T	XP_011520839.1:p.Ser872Ile
XM_024450298.1:c.5657G>T	XP_024306066.1:p.Ser1886Ile
XM_024450299.1:c.5585G>T	XP_024306067.1:p.Ser1862Ile
XM_024450300.1:c.5447G>T	XP_024306068.1:p.Ser1816Ile
XM_024450301.1:c.3533G>T	XP_024306069.1:p.Ser1178Ile
NM_000296.4:c.5537G>T	NP_000287.4:p.Ser1846Ile
NM_001009944.3:c.5537G>T MANE Select	NP_001009944.3:p.Ser1846Ile