Canonical Allele Identifier: CA394376456

Gene: PKD1

Linked Data

• gnomAD v4: 16-2109633-C-A
• MyVariant Identifiers: chr16:g.2159634C>A (hg19) ; chr16:g.2109633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109633C>A , CM000678.2:g.2109633C>A	GRCh38
NC_000016.9:g.2159634C>A , CM000678.1:g.2159634C>A	GRCh37
NC_000016.8:g.2099635C>A	NCBI36
NG_008617.1:g.31266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5534G>T MANE Select	ENSP00000262304.4:p.Ser1845Ile
ENST00000262304.8:c.5534G>T	ENSP00000262304.4:p.Ser1845Ile
ENST00000415938.7:n.311-2685G>T
ENST00000423118.5:c.5534G>T	ENSP00000399501.1:p.Ser1845Ile
ENST00000468674.5:n.431-283G>T
ENST00000483024.1:c.233+2183G>T
ENST00000483731.5:n.791-2685G>T
ENST00000487932.5:c.221G>T	ENSP00000457132.1:p.Ser74Ile
ENST00000488185.2:c.473-1275G>T
ENST00000565639.6:n.774-2685G>T
ENST00000568591.5:c.2227-2685G>T	ENSP00000457162.1:n.2227-2685G>T
ENST00000569983.5:n.422-2685G>T
NM_000296.3:c.5534G>T	NP_000287.3:p.Ser1845Ile
NM_001009944.2:c.5534G>T	NP_001009944.2:p.Ser1845Ile
XM_005255370.2:c.2489G>T	XP_005255427.1:p.Ser830Ile
XM_011522525.1:c.5612G>T	XP_011520827.1:p.Ser1871Ile
XM_011522526.1:c.5612G>T	XP_011520828.1:p.Ser1871Ile
XM_011522527.1:c.5612G>T	XP_011520829.1:p.Ser1871Ile
XM_011522528.1:c.5588G>T	XP_011520830.1:p.Ser1863Ile
XM_011522529.1:c.5588G>T	XP_011520831.1:p.Ser1863Ile
XM_011522530.1:c.5558G>T	XP_011520832.1:p.Ser1853Ile
XM_011522531.1:c.5540G>T	XP_011520833.1:p.Ser1847Ile
XM_011522532.1:c.5486G>T	XP_011520834.1:p.Ser1829Ile
XM_011522533.1:c.5405G>T	XP_011520835.1:p.Ser1802Ile
XM_011522534.1:c.5348G>T	XP_011520836.1:p.Ser1783Ile
XM_011522535.1:c.3434G>T	XP_011520837.1:p.Ser1145Ile
XM_011522536.1:c.5612G>T	XP_011520838.1:p.Ser1871Ile
XM_011522537.1:c.2612G>T	XP_011520839.1:p.Ser871Ile
XR_932867.1:n.5627G>T
XR_932868.1:n.5627G>T
XR_932869.1:n.5627G>T
XR_932870.1:n.5627G>T
XM_005255370.3:c.2489G>T	XP_005255427.1:p.Ser830Ile
XM_011522528.3:c.5588G>T	XP_011520830.1:p.Ser1863Ile
XM_011522529.2:c.5588G>T	XP_011520831.1:p.Ser1863Ile
XM_011522537.2:c.2612G>T	XP_011520839.1:p.Ser871Ile
XM_024450298.1:c.5654G>T	XP_024306066.1:p.Ser1885Ile
XM_024450299.1:c.5582G>T	XP_024306067.1:p.Ser1861Ile
XM_024450300.1:c.5444G>T	XP_024306068.1:p.Ser1815Ile
XM_024450301.1:c.3530G>T	XP_024306069.1:p.Ser1177Ile
NM_000296.4:c.5534G>T	NP_000287.4:p.Ser1845Ile
NM_001009944.3:c.5534G>T MANE Select	NP_001009944.3:p.Ser1845Ile