Canonical Allele Identifier: CA394376437

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159629T>G (hg19) ; chr16:g.2109628T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109628T>G , CM000678.2:g.2109628T>G	GRCh38
NC_000016.9:g.2159629T>G , CM000678.1:g.2159629T>G	GRCh37
NC_000016.8:g.2099630T>G	NCBI36
NG_008617.1:g.31271A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5539A>C MANE Select	ENSP00000262304.4:p.Lys1847Gln
ENST00000262304.8:c.5539A>C	ENSP00000262304.4:p.Lys1847Gln
ENST00000415938.7:n.311-2680A>C
ENST00000423118.5:c.5539A>C	ENSP00000399501.1:p.Lys1847Gln
ENST00000468674.5:n.431-278A>C
ENST00000483024.1:c.233+2188A>C
ENST00000483731.5:n.791-2680A>C
ENST00000487932.5:c.226A>C	ENSP00000457132.1:p.Lys76Gln
ENST00000488185.2:c.473-1270A>C
ENST00000565639.6:n.774-2680A>C
ENST00000568591.5:c.2227-2680A>C	ENSP00000457162.1:n.2227-2680A>C
ENST00000569983.5:n.422-2680A>C
NM_000296.3:c.5539A>C	NP_000287.3:p.Lys1847Gln
NM_001009944.2:c.5539A>C	NP_001009944.2:p.Lys1847Gln
XM_005255370.2:c.2494A>C	XP_005255427.1:p.Lys832Gln
XM_011522525.1:c.5617A>C	XP_011520827.1:p.Lys1873Gln
XM_011522526.1:c.5617A>C	XP_011520828.1:p.Lys1873Gln
XM_011522527.1:c.5617A>C	XP_011520829.1:p.Lys1873Gln
XM_011522528.1:c.5593A>C	XP_011520830.1:p.Lys1865Gln
XM_011522529.1:c.5593A>C	XP_011520831.1:p.Lys1865Gln
XM_011522530.1:c.5563A>C	XP_011520832.1:p.Lys1855Gln
XM_011522531.1:c.5545A>C	XP_011520833.1:p.Lys1849Gln
XM_011522532.1:c.5491A>C	XP_011520834.1:p.Lys1831Gln
XM_011522533.1:c.5410A>C	XP_011520835.1:p.Lys1804Gln
XM_011522534.1:c.5353A>C	XP_011520836.1:p.Lys1785Gln
XM_011522535.1:c.3439A>C	XP_011520837.1:p.Lys1147Gln
XM_011522536.1:c.5617A>C	XP_011520838.1:p.Lys1873Gln
XM_011522537.1:c.2617A>C	XP_011520839.1:p.Lys873Gln
XR_932867.1:n.5632A>C
XR_932868.1:n.5632A>C
XR_932869.1:n.5632A>C
XR_932870.1:n.5632A>C
XM_005255370.3:c.2494A>C	XP_005255427.1:p.Lys832Gln
XM_011522528.3:c.5593A>C	XP_011520830.1:p.Lys1865Gln
XM_011522529.2:c.5593A>C	XP_011520831.1:p.Lys1865Gln
XM_011522537.2:c.2617A>C	XP_011520839.1:p.Lys873Gln
XM_024450298.1:c.5659A>C	XP_024306066.1:p.Lys1887Gln
XM_024450299.1:c.5587A>C	XP_024306067.1:p.Lys1863Gln
XM_024450300.1:c.5449A>C	XP_024306068.1:p.Lys1817Gln
XM_024450301.1:c.3535A>C	XP_024306069.1:p.Lys1179Gln
NM_000296.4:c.5539A>C	NP_000287.4:p.Lys1847Gln
NM_001009944.3:c.5539A>C MANE Select	NP_001009944.3:p.Lys1847Gln