Canonical Allele Identifier: CA394377071

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159734G>C (hg19) ; chr16:g.2109733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109733G>C , CM000678.2:g.2109733G>C	GRCh38
NC_000016.9:g.2159734G>C , CM000678.1:g.2159734G>C	GRCh37
NC_000016.8:g.2099735G>C	NCBI36
NG_008617.1:g.31166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5434C>G MANE Select	ENSP00000262304.4:p.Pro1812Ala
ENST00000262304.8:c.5434C>G	ENSP00000262304.4:p.Pro1812Ala
ENST00000415938.7:n.310+2607C>G
ENST00000423118.5:c.5434C>G	ENSP00000399501.1:p.Pro1812Ala
ENST00000468674.5:n.431-383C>G
ENST00000483024.1:c.233+2083C>G
ENST00000483731.5:n.790+2607C>G
ENST00000487932.5:c.121C>G	ENSP00000457132.1:p.Pro41Ala
ENST00000488185.2:c.473-1375C>G
ENST00000565639.6:n.773+2607C>G
ENST00000568591.5:c.2226+2607C>G	ENSP00000457162.1:n.2226+2607C>G
ENST00000569983.5:n.421+2607C>G
NM_000296.3:c.5434C>G	NP_000287.3:p.Pro1812Ala
NM_001009944.2:c.5434C>G	NP_001009944.2:p.Pro1812Ala
XM_005255370.2:c.2389C>G	XP_005255427.1:p.Pro797Ala
XM_011522525.1:c.5512C>G	XP_011520827.1:p.Pro1838Ala
XM_011522526.1:c.5512C>G	XP_011520828.1:p.Pro1838Ala
XM_011522527.1:c.5512C>G	XP_011520829.1:p.Pro1838Ala
XM_011522528.1:c.5488C>G	XP_011520830.1:p.Pro1830Ala
XM_011522529.1:c.5488C>G	XP_011520831.1:p.Pro1830Ala
XM_011522530.1:c.5458C>G	XP_011520832.1:p.Pro1820Ala
XM_011522531.1:c.5440C>G	XP_011520833.1:p.Pro1814Ala
XM_011522532.1:c.5386C>G	XP_011520834.1:p.Pro1796Ala
XM_011522533.1:c.5305C>G	XP_011520835.1:p.Pro1769Ala
XM_011522534.1:c.5248C>G	XP_011520836.1:p.Pro1750Ala
XM_011522535.1:c.3334C>G	XP_011520837.1:p.Pro1112Ala
XM_011522536.1:c.5512C>G	XP_011520838.1:p.Pro1838Ala
XM_011522537.1:c.2512C>G	XP_011520839.1:p.Pro838Ala
XR_932867.1:n.5527C>G
XR_932868.1:n.5527C>G
XR_932869.1:n.5527C>G
XR_932870.1:n.5527C>G
XM_005255370.3:c.2389C>G	XP_005255427.1:p.Pro797Ala
XM_011522528.3:c.5488C>G	XP_011520830.1:p.Pro1830Ala
XM_011522529.2:c.5488C>G	XP_011520831.1:p.Pro1830Ala
XM_011522537.2:c.2512C>G	XP_011520839.1:p.Pro838Ala
XM_024450298.1:c.5554C>G	XP_024306066.1:p.Pro1852Ala
XM_024450299.1:c.5482C>G	XP_024306067.1:p.Pro1828Ala
XM_024450300.1:c.5344C>G	XP_024306068.1:p.Pro1782Ala
XM_024450301.1:c.3430C>G	XP_024306069.1:p.Pro1144Ala
NM_000296.4:c.5434C>G	NP_000287.4:p.Pro1812Ala
NM_001009944.3:c.5434C>G MANE Select	NP_001009944.3:p.Pro1812Ala