Canonical Allele Identifier: CA7828940
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090963G>A , CM000678.2:g.2090963G>A GRCh38
NC_000016.9:g.2140964G>A , CM000678.1:g.2140964G>A GRCh37
NC_000016.8:g.2080965G>A NCBI36
NG_005895.1:g.46658G>A , LRG_487:g.46658G>A
NG_008617.1:g.52258C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11924C>T MANE Select NP_001009944.3:p.Thr3975Ile
ENST00000262304.9:c.11924C>T MANE Select ENSP00000262304.4:p.Thr3975Ile
NM_000296.3:c.11921C>T NP_000287.3:p.Thr3974Ile
NM_000296.4:c.11921C>T NP_000287.4:p.Thr3974Ile
NM_001009944.2:c.11924C>T NP_001009944.2:p.Thr3975Ile
ENST00000262304.8:c.11924C>T ENSP00000262304.4:p.Thr3975Ile
ENST00000423118.5:c.11921C>T ENSP00000399501.1:p.Thr3974Ile
ENST00000561668.5:c.585C>T
ENST00000564313.1:n.445C>T
XM_005255370.2:c.8879C>T XP_005255427.1:p.Thr2960Ile
XM_005255370.3:c.8879C>T XP_005255427.1:p.Thr2960Ile
XM_011522525.1:c.12002C>T XP_011520827.1:p.Thr4001Ile
XM_011522526.1:c.11999C>T XP_011520828.1:p.Thr4000Ile
XM_011522527.1:c.11984C>T XP_011520829.1:p.Thr3995Ile
XM_011522528.1:c.11978C>T XP_011520830.1:p.Thr3993Ile
XM_011522528.3:c.11978C>T XP_011520830.1:p.Thr3993Ile
XM_011522529.1:c.11975C>T XP_011520831.1:p.Thr3992Ile
XM_011522529.2:c.11975C>T XP_011520831.1:p.Thr3992Ile
XM_011522530.1:c.11948C>T XP_011520832.1:p.Thr3983Ile
XM_011522531.1:c.11930C>T XP_011520833.1:p.Thr3977Ile
XM_011522532.1:c.11876C>T XP_011520834.1:p.Thr3959Ile
XM_011522533.1:c.11795C>T XP_011520835.1:p.Thr3932Ile
XM_011522534.1:c.11738C>T XP_011520836.1:p.Thr3913Ile
XM_011522535.1:c.9824C>T XP_011520837.1:p.Thr3275Ile
XM_011522537.1:c.9002C>T XP_011520839.1:p.Thr3001Ile
XM_011522537.2:c.9002C>T XP_011520839.1:p.Thr3001Ile
XM_024450298.1:c.12044C>T XP_024306066.1:p.Thr4015Ile
XM_024450299.1:c.11972C>T XP_024306067.1:p.Thr3991Ile
XM_024450300.1:c.11834C>T XP_024306068.1:p.Thr3945Ile
XM_024450301.1:c.9920C>T XP_024306069.1:p.Thr3307Ile
XR_932867.1:n.11842C>T
XR_932869.1:n.11589C>T