Canonical Allele Identifier: CA7831950

Gene: PKD1

Linked Data

• dbSNP Id: rs150841859
• ExAC: 16:2159626 G / A
• gnomAD v2: 16-2159626-G-A
• gnomAD v3: 16-2109625-G-A
• gnomAD v4: 16-2109625-G-A
• MyVariant Identifiers: chr16:g.2159626G>A (hg19) ; chr16:g.2109625G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5542C>T MANE Select	ENSP00000262304.4:p.Arg1848Cys
ENST00000262304.8:c.5542C>T	ENSP00000262304.4:p.Arg1848Cys
ENST00000415938.7:n.311-2677C>T
ENST00000423118.5:c.5542C>T	ENSP00000399501.1:p.Arg1848Cys
ENST00000468674.5:n.431-275C>T
ENST00000483024.1:c.233+2191C>T
ENST00000483731.5:n.791-2677C>T
ENST00000487932.5:c.229C>T	ENSP00000457132.1:p.Arg77Cys
ENST00000488185.2:c.473-1267C>T
ENST00000565639.6:n.774-2677C>T
ENST00000568591.5:c.2227-2677C>T	ENSP00000457162.1:n.2227-2677C>T
ENST00000569983.5:n.422-2677C>T
NM_000296.3:c.5542C>T	NP_000287.3:p.Arg1848Cys
NM_001009944.2:c.5542C>T	NP_001009944.2:p.Arg1848Cys
XM_005255370.2:c.2497C>T	XP_005255427.1:p.Arg833Cys
XM_011522525.1:c.5620C>T	XP_011520827.1:p.Arg1874Cys
XM_011522526.1:c.5620C>T	XP_011520828.1:p.Arg1874Cys
XM_011522527.1:c.5620C>T	XP_011520829.1:p.Arg1874Cys
XM_011522528.1:c.5596C>T	XP_011520830.1:p.Arg1866Cys
XM_011522529.1:c.5596C>T	XP_011520831.1:p.Arg1866Cys
XM_011522530.1:c.5566C>T	XP_011520832.1:p.Arg1856Cys
XM_011522531.1:c.5548C>T	XP_011520833.1:p.Arg1850Cys
XM_011522532.1:c.5494C>T	XP_011520834.1:p.Arg1832Cys
XM_011522533.1:c.5413C>T	XP_011520835.1:p.Arg1805Cys
XM_011522534.1:c.5356C>T	XP_011520836.1:p.Arg1786Cys
XM_011522535.1:c.3442C>T	XP_011520837.1:p.Arg1148Cys
XM_011522536.1:c.5620C>T	XP_011520838.1:p.Arg1874Cys
XM_011522537.1:c.2620C>T	XP_011520839.1:p.Arg874Cys
XR_932867.1:n.5635C>T
XR_932868.1:n.5635C>T
XR_932869.1:n.5635C>T
XR_932870.1:n.5635C>T
XM_005255370.3:c.2497C>T	XP_005255427.1:p.Arg833Cys
XM_011522528.3:c.5596C>T	XP_011520830.1:p.Arg1866Cys
XM_011522529.2:c.5596C>T	XP_011520831.1:p.Arg1866Cys
XM_011522537.2:c.2620C>T	XP_011520839.1:p.Arg874Cys
XM_024450298.1:c.5662C>T	XP_024306066.1:p.Arg1888Cys
XM_024450299.1:c.5590C>T	XP_024306067.1:p.Arg1864Cys
XM_024450300.1:c.5452C>T	XP_024306068.1:p.Arg1818Cys
XM_024450301.1:c.3538C>T	XP_024306069.1:p.Arg1180Cys
NM_000296.4:c.5542C>T	NP_000287.4:p.Arg1848Cys
NM_001009944.3:c.5542C>T MANE Select	NP_001009944.3:p.Arg1848Cys