Canonical Allele Identifier: CA394376422

Gene: PKD1

Linked Data

• gnomAD v4: 16-2109625-G-T
• MyVariant Identifiers: chr16:g.2159626G>T (hg19) ; chr16:g.2109625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109625G>T , CM000678.2:g.2109625G>T	GRCh38
NC_000016.9:g.2159626G>T , CM000678.1:g.2159626G>T	GRCh37
NC_000016.8:g.2099627G>T	NCBI36
NG_008617.1:g.31274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5542C>A MANE Select	ENSP00000262304.4:p.Arg1848Ser
ENST00000262304.8:c.5542C>A	ENSP00000262304.4:p.Arg1848Ser
ENST00000415938.7:n.311-2677C>A
ENST00000423118.5:c.5542C>A	ENSP00000399501.1:p.Arg1848Ser
ENST00000468674.5:n.431-275C>A
ENST00000483024.1:c.233+2191C>A
ENST00000483731.5:n.791-2677C>A
ENST00000487932.5:c.229C>A	ENSP00000457132.1:p.Arg77Ser
ENST00000488185.2:c.473-1267C>A
ENST00000565639.6:n.774-2677C>A
ENST00000568591.5:c.2227-2677C>A	ENSP00000457162.1:n.2227-2677C>A
ENST00000569983.5:n.422-2677C>A
NM_000296.3:c.5542C>A	NP_000287.3:p.Arg1848Ser
NM_001009944.2:c.5542C>A	NP_001009944.2:p.Arg1848Ser
XM_005255370.2:c.2497C>A	XP_005255427.1:p.Arg833Ser
XM_011522525.1:c.5620C>A	XP_011520827.1:p.Arg1874Ser
XM_011522526.1:c.5620C>A	XP_011520828.1:p.Arg1874Ser
XM_011522527.1:c.5620C>A	XP_011520829.1:p.Arg1874Ser
XM_011522528.1:c.5596C>A	XP_011520830.1:p.Arg1866Ser
XM_011522529.1:c.5596C>A	XP_011520831.1:p.Arg1866Ser
XM_011522530.1:c.5566C>A	XP_011520832.1:p.Arg1856Ser
XM_011522531.1:c.5548C>A	XP_011520833.1:p.Arg1850Ser
XM_011522532.1:c.5494C>A	XP_011520834.1:p.Arg1832Ser
XM_011522533.1:c.5413C>A	XP_011520835.1:p.Arg1805Ser
XM_011522534.1:c.5356C>A	XP_011520836.1:p.Arg1786Ser
XM_011522535.1:c.3442C>A	XP_011520837.1:p.Arg1148Ser
XM_011522536.1:c.5620C>A	XP_011520838.1:p.Arg1874Ser
XM_011522537.1:c.2620C>A	XP_011520839.1:p.Arg874Ser
XR_932867.1:n.5635C>A
XR_932868.1:n.5635C>A
XR_932869.1:n.5635C>A
XR_932870.1:n.5635C>A
XM_005255370.3:c.2497C>A	XP_005255427.1:p.Arg833Ser
XM_011522528.3:c.5596C>A	XP_011520830.1:p.Arg1866Ser
XM_011522529.2:c.5596C>A	XP_011520831.1:p.Arg1866Ser
XM_011522537.2:c.2620C>A	XP_011520839.1:p.Arg874Ser
XM_024450298.1:c.5662C>A	XP_024306066.1:p.Arg1888Ser
XM_024450299.1:c.5590C>A	XP_024306067.1:p.Arg1864Ser
XM_024450300.1:c.5452C>A	XP_024306068.1:p.Arg1818Ser
XM_024450301.1:c.3538C>A	XP_024306069.1:p.Arg1180Ser
NM_000296.4:c.5542C>A	NP_000287.4:p.Arg1848Ser
NM_001009944.3:c.5542C>A MANE Select	NP_001009944.3:p.Arg1848Ser