Canonical Allele Identifier: CA394382780

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2582219
• ClinVar RCV Id: RCV003332925
• gnomAD v4: 16-2111568-G-C
• MyVariant Identifiers: chr16:g.2161569G>C (hg19) ; chr16:g.2111568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111568G>C , CM000678.2:g.2111568G>C	GRCh38
NC_000016.9:g.2161569G>C , CM000678.1:g.2161569G>C	GRCh37
NC_000016.8:g.2101570G>C	NCBI36
NG_008617.1:g.29331C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3599C>G MANE Select	ENSP00000262304.4:p.Ala1200Gly
ENST00000262304.8:c.3599C>G	ENSP00000262304.4:p.Ala1200Gly
ENST00000415938.7:n.310+772C>G
ENST00000423118.5:c.3599C>G	ENSP00000399501.1:p.Ala1200Gly
ENST00000468674.5:n.430+772C>G
ENST00000469241.2:n.549C>G
ENST00000483024.1:c.233+248C>G
ENST00000483731.5:n.790+772C>G
ENST00000488185.2:c.473-3210C>G
ENST00000565639.6:n.773+772C>G
ENST00000568591.5:c.2226+772C>G	ENSP00000457162.1:n.2226+772C>G
ENST00000569983.5:n.421+772C>G
NM_000296.3:c.3599C>G	NP_000287.3:p.Ala1200Gly
NM_001009944.2:c.3599C>G	NP_001009944.2:p.Ala1200Gly
XM_005255370.2:c.554C>G	XP_005255427.1:p.Ala185Gly
XM_011522525.1:c.3677C>G	XP_011520827.1:p.Ala1226Gly
XM_011522526.1:c.3677C>G	XP_011520828.1:p.Ala1226Gly
XM_011522527.1:c.3677C>G	XP_011520829.1:p.Ala1226Gly
XM_011522528.1:c.3653C>G	XP_011520830.1:p.Ala1218Gly
XM_011522529.1:c.3653C>G	XP_011520831.1:p.Ala1218Gly
XM_011522530.1:c.3623C>G	XP_011520832.1:p.Ala1208Gly
XM_011522531.1:c.3605C>G	XP_011520833.1:p.Ala1202Gly
XM_011522532.1:c.3551C>G	XP_011520834.1:p.Ala1184Gly
XM_011522533.1:c.3470C>G	XP_011520835.1:p.Ala1157Gly
XM_011522534.1:c.3413C>G	XP_011520836.1:p.Ala1138Gly
XM_011522535.1:c.1499C>G	XP_011520837.1:p.Ala500Gly
XM_011522536.1:c.3677C>G	XP_011520838.1:p.Ala1226Gly
XM_011522537.1:c.677C>G	XP_011520839.1:p.Ala226Gly
XR_932867.1:n.3692C>G
XR_932868.1:n.3692C>G
XR_932869.1:n.3692C>G
XR_932870.1:n.3692C>G
XM_005255370.3:c.554C>G	XP_005255427.1:p.Ala185Gly
XM_011522528.3:c.3653C>G	XP_011520830.1:p.Ala1218Gly
XM_011522529.2:c.3653C>G	XP_011520831.1:p.Ala1218Gly
XM_011522537.2:c.677C>G	XP_011520839.1:p.Ala226Gly
XM_024450298.1:c.3719C>G	XP_024306066.1:p.Ala1240Gly
XM_024450299.1:c.3647C>G	XP_024306067.1:p.Ala1216Gly
XM_024450300.1:c.3509C>G	XP_024306068.1:p.Ala1170Gly
XM_024450301.1:c.1595C>G	XP_024306069.1:p.Ala532Gly
NM_000296.4:c.3599C>G	NP_000287.4:p.Ala1200Gly
NM_001009944.3:c.3599C>G MANE Select	NP_001009944.3:p.Ala1200Gly