Canonical Allele Identifier: CA394356683
Community Standard Title: NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100560G>A , CM000678.2:g.2100560G>A GRCh38
NC_000016.9:g.2150561G>A , CM000678.1:g.2150561G>A GRCh37
NC_000016.8:g.2090562G>A NCBI36
NG_008617.1:g.42661C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9404C>T MANE Select NP_001009944.3:p.Thr3135Met
ENST00000262304.9:c.9404C>T MANE Select ENSP00000262304.4:p.Thr3135Met
NM_000296.3:c.9404C>T NP_000287.3:p.Thr3135Met
NM_000296.4:c.9404C>T NP_000287.4:p.Thr3135Met
NM_001009944.2:c.9404C>T NP_001009944.2:p.Thr3135Met
ENST00000262304.8:c.9404C>T ENSP00000262304.4:p.Thr3135Met
ENST00000415938.7:n.2483C>T
ENST00000423118.5:c.9404C>T ENSP00000399501.1:p.Thr3135Met
ENST00000469851.1:n.127C>T
ENST00000471603.6:n.1048C>T
ENST00000480227.5:n.1141C>T
ENST00000483731.5:n.3290C>T
ENST00000483814.1:n.206C>T
ENST00000486339.6:n.3540C>T
ENST00000487932.5:c.3966C>T ENSP00000457132.1:n.3966C>T
ENST00000496574.6:n.3640C>T
ENST00000562297.5:n.1137C>T
ENST00000567946.1:c.1006C>T
XM_005255370.2:c.6359C>T XP_005255427.1:p.Thr2120Met
XM_005255370.3:c.6359C>T XP_005255427.1:p.Thr2120Met
XM_011522525.1:c.9482C>T XP_011520827.1:p.Thr3161Met
XM_011522526.1:c.9482C>T XP_011520828.1:p.Thr3161Met
XM_011522527.1:c.9464C>T XP_011520829.1:p.Thr3155Met
XM_011522528.1:c.9458C>T XP_011520830.1:p.Thr3153Met
XM_011522528.3:c.9458C>T XP_011520830.1:p.Thr3153Met
XM_011522529.1:c.9458C>T XP_011520831.1:p.Thr3153Met
XM_011522529.2:c.9458C>T XP_011520831.1:p.Thr3153Met
XM_011522530.1:c.9428C>T XP_011520832.1:p.Thr3143Met
XM_011522531.1:c.9410C>T XP_011520833.1:p.Thr3137Met
XM_011522532.1:c.9356C>T XP_011520834.1:p.Thr3119Met
XM_011522533.1:c.9275C>T XP_011520835.1:p.Thr3092Met
XM_011522534.1:c.9218C>T XP_011520836.1:p.Thr3073Met
XM_011522535.1:c.7304C>T XP_011520837.1:p.Thr2435Met
XM_011522536.1:c.9482C>T XP_011520838.1:p.Thr3161Met
XM_011522537.1:c.6482C>T XP_011520839.1:p.Thr2161Met
XM_011522537.2:c.6482C>T XP_011520839.1:p.Thr2161Met
XM_024450298.1:c.9524C>T XP_024306066.1:p.Thr3175Met
XM_024450299.1:c.9452C>T XP_024306067.1:p.Thr3151Met
XM_024450300.1:c.9314C>T XP_024306068.1:p.Thr3105Met
XM_024450301.1:c.7400C>T XP_024306069.1:p.Thr2467Met
XR_932867.1:n.9497C>T
XR_932868.1:n.9497C>T
XR_932869.1:n.9497C>T
XR_932870.1:n.9497C>T