Canonical Allele Identifier: CA276779725
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 562262
ClinVar RCV Id: RCV000681700 RCV000763373 RCV001254314 RCV001292446
dbSNP Id: rs2432403
gnomAD v4: 16-2106599-G-A
MyVariant Identifiers: chr16:g.2156600G>A (hg19) chr16:g.2106599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106599G>A , CM000678.2:g.2106599G>A GRCh38
NC_000016.9:g.2156600G>A , CM000678.1:g.2156600G>A GRCh37
NC_000016.8:g.2096601G>A NCBI36
NG_008617.1:g.34300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.7288C>T MANE Select ENSP00000262304.4:p.Arg2430Ter
ENST00000262304.8:c.7288C>T ENSP00000262304.4:p.Arg2430Ter
ENST00000415938.7:n.533C>T
ENST00000423118.5:c.7288C>T ENSP00000399501.1:p.Arg2430Ter
ENST00000483024.1:c.456C>T
ENST00000483558.5:n.347C>T
ENST00000483731.5:n.1013C>T
ENST00000486339.6:n.1034C>T
ENST00000487932.5:c.1975C>T ENSP00000457132.1:p.Arg659Ter
ENST00000496574.6:n.1291C>T
ENST00000565639.6:n.996C>T
ENST00000568591.5:c.2449C>T ENSP00000457162.1:n.2449C>T
ENST00000569983.5:n.644C>T
NM_000296.3:c.7288C>T NP_000287.3:p.Arg2430Ter
NM_001009944.2:c.7288C>T NP_001009944.2:p.Arg2430Ter
XM_005255370.2:c.4243C>T XP_005255427.1:p.Arg1415Ter
XM_011522525.1:c.7366C>T XP_011520827.1:p.Arg2456Ter
XM_011522526.1:c.7366C>T XP_011520828.1:p.Arg2456Ter
XM_011522527.1:c.7366C>T XP_011520829.1:p.Arg2456Ter
XM_011522528.1:c.7342C>T XP_011520830.1:p.Arg2448Ter
XM_011522529.1:c.7342C>T XP_011520831.1:p.Arg2448Ter
XM_011522530.1:c.7312C>T XP_011520832.1:p.Arg2438Ter
XM_011522531.1:c.7294C>T XP_011520833.1:p.Arg2432Ter
XM_011522532.1:c.7240C>T XP_011520834.1:p.Arg2414Ter
XM_011522533.1:c.7159C>T XP_011520835.1:p.Arg2387Ter
XM_011522534.1:c.7102C>T XP_011520836.1:p.Arg2368Ter
XM_011522535.1:c.5188C>T XP_011520837.1:p.Arg1730Ter
XM_011522536.1:c.7366C>T XP_011520838.1:p.Arg2456Ter
XM_011522537.1:c.4366C>T XP_011520839.1:p.Arg1456Ter
XR_932867.1:n.7381C>T
XR_932868.1:n.7381C>T
XR_932869.1:n.7381C>T
XR_932870.1:n.7381C>T
XM_005255370.3:c.4243C>T XP_005255427.1:p.Arg1415Ter
XM_011522528.3:c.7342C>T XP_011520830.1:p.Arg2448Ter
XM_011522529.2:c.7342C>T XP_011520831.1:p.Arg2448Ter
XM_011522537.2:c.4366C>T XP_011520839.1:p.Arg1456Ter
XM_024450298.1:c.7408C>T XP_024306066.1:p.Arg2470Ter
XM_024450299.1:c.7336C>T XP_024306067.1:p.Arg2446Ter
XM_024450300.1:c.7198C>T XP_024306068.1:p.Arg2400Ter
XM_024450301.1:c.5284C>T XP_024306069.1:p.Arg1762Ter
NM_000296.4:c.7288C>T NP_000287.4:p.Arg2430Ter
NM_001009944.3:c.7288C>T MANE Select NP_001009944.3:p.Arg2430Ter
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