Canonical Allele Identifier: CA394376439

Gene: PKD1

Linked Data

• dbSNP Id: rs1385863852
• MyVariant Identifiers: chr16:g.2159630G>C (hg19) ; chr16:g.2109629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109629G>C , CM000678.2:g.2109629G>C	GRCh38
NC_000016.9:g.2159630G>C , CM000678.1:g.2159630G>C	GRCh37
NC_000016.8:g.2099631G>C	NCBI36
NG_008617.1:g.31270C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5538C>G MANE Select	ENSP00000262304.4:p.Ser1846Arg
ENST00000262304.8:c.5538C>G	ENSP00000262304.4:p.Ser1846Arg
ENST00000415938.7:n.311-2681C>G
ENST00000423118.5:c.5538C>G	ENSP00000399501.1:p.Ser1846Arg
ENST00000468674.5:n.431-279C>G
ENST00000483024.1:c.233+2187C>G
ENST00000483731.5:n.791-2681C>G
ENST00000487932.5:c.225C>G	ENSP00000457132.1:p.Ser75Arg
ENST00000488185.2:c.473-1271C>G
ENST00000565639.6:n.774-2681C>G
ENST00000568591.5:c.2227-2681C>G	ENSP00000457162.1:n.2227-2681C>G
ENST00000569983.5:n.422-2681C>G
NM_000296.3:c.5538C>G	NP_000287.3:p.Ser1846Arg
NM_001009944.2:c.5538C>G	NP_001009944.2:p.Ser1846Arg
XM_005255370.2:c.2493C>G	XP_005255427.1:p.Ser831Arg
XM_011522525.1:c.5616C>G	XP_011520827.1:p.Ser1872Arg
XM_011522526.1:c.5616C>G	XP_011520828.1:p.Ser1872Arg
XM_011522527.1:c.5616C>G	XP_011520829.1:p.Ser1872Arg
XM_011522528.1:c.5592C>G	XP_011520830.1:p.Ser1864Arg
XM_011522529.1:c.5592C>G	XP_011520831.1:p.Ser1864Arg
XM_011522530.1:c.5562C>G	XP_011520832.1:p.Ser1854Arg
XM_011522531.1:c.5544C>G	XP_011520833.1:p.Ser1848Arg
XM_011522532.1:c.5490C>G	XP_011520834.1:p.Ser1830Arg
XM_011522533.1:c.5409C>G	XP_011520835.1:p.Ser1803Arg
XM_011522534.1:c.5352C>G	XP_011520836.1:p.Ser1784Arg
XM_011522535.1:c.3438C>G	XP_011520837.1:p.Ser1146Arg
XM_011522536.1:c.5616C>G	XP_011520838.1:p.Ser1872Arg
XM_011522537.1:c.2616C>G	XP_011520839.1:p.Ser872Arg
XR_932867.1:n.5631C>G
XR_932868.1:n.5631C>G
XR_932869.1:n.5631C>G
XR_932870.1:n.5631C>G
XM_005255370.3:c.2493C>G	XP_005255427.1:p.Ser831Arg
XM_011522528.3:c.5592C>G	XP_011520830.1:p.Ser1864Arg
XM_011522529.2:c.5592C>G	XP_011520831.1:p.Ser1864Arg
XM_011522537.2:c.2616C>G	XP_011520839.1:p.Ser872Arg
XM_024450298.1:c.5658C>G	XP_024306066.1:p.Ser1886Arg
XM_024450299.1:c.5586C>G	XP_024306067.1:p.Ser1862Arg
XM_024450300.1:c.5448C>G	XP_024306068.1:p.Ser1816Arg
XM_024450301.1:c.3534C>G	XP_024306069.1:p.Ser1178Arg
NM_000296.4:c.5538C>G	NP_000287.4:p.Ser1846Arg
NM_001009944.3:c.5538C>G MANE Select	NP_001009944.3:p.Ser1846Arg