Canonical Allele Identifier: CA394355458
Community Standard Title: NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100280C>A , CM000678.2:g.2100280C>A GRCh38
NC_000016.9:g.2150281C>A , CM000678.1:g.2150281C>A GRCh37
NC_000016.8:g.2090282C>A NCBI36
NG_008617.1:g.42941G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9598G>T MANE Select NP_001009944.3:p.Val3200Phe
ENST00000262304.9:c.9598G>T MANE Select ENSP00000262304.4:p.Val3200Phe
NM_000296.3:c.9598G>T NP_000287.3:p.Val3200Phe
NM_000296.4:c.9598G>T NP_000287.4:p.Val3200Phe
NM_001009944.2:c.9598G>T NP_001009944.2:p.Val3200Phe
ENST00000262304.8:c.9598G>T ENSP00000262304.4:p.Val3200Phe
ENST00000415938.7:n.2677G>T
ENST00000423118.5:c.9598G>T ENSP00000399501.1:p.Val3200Phe
ENST00000469851.1:n.407G>T
ENST00000471603.6:n.1242G>T
ENST00000480227.5:n.1335G>T
ENST00000483731.5:n.3484G>T
ENST00000483814.1:n.400G>T
ENST00000486339.6:n.3734G>T
ENST00000487932.5:c.4160G>T ENSP00000457132.1:n.4160G>T
ENST00000496574.6:n.3834G>T
ENST00000562297.5:n.1331G>T
ENST00000566905.5:n.88G>T
ENST00000567946.1:c.1200G>T
ENST00000570193.5:n.42G>T
ENST00000570253.5:n.21G>T
XM_005255370.2:c.6553G>T XP_005255427.1:p.Val2185Phe
XM_005255370.3:c.6553G>T XP_005255427.1:p.Val2185Phe
XM_011522525.1:c.9676G>T XP_011520827.1:p.Val3226Phe
XM_011522526.1:c.9676G>T XP_011520828.1:p.Val3226Phe
XM_011522527.1:c.9658G>T XP_011520829.1:p.Val3220Phe
XM_011522528.1:c.9652G>T XP_011520830.1:p.Val3218Phe
XM_011522528.3:c.9652G>T XP_011520830.1:p.Val3218Phe
XM_011522529.1:c.9652G>T XP_011520831.1:p.Val3218Phe
XM_011522529.2:c.9652G>T XP_011520831.1:p.Val3218Phe
XM_011522530.1:c.9622G>T XP_011520832.1:p.Val3208Phe
XM_011522531.1:c.9604G>T XP_011520833.1:p.Val3202Phe
XM_011522532.1:c.9550G>T XP_011520834.1:p.Val3184Phe
XM_011522533.1:c.9469G>T XP_011520835.1:p.Val3157Phe
XM_011522534.1:c.9412G>T XP_011520836.1:p.Val3138Phe
XM_011522535.1:c.7498G>T XP_011520837.1:p.Val2500Phe
XM_011522536.1:c.9676G>T XP_011520838.1:p.Val3226Phe
XM_011522537.1:c.6676G>T XP_011520839.1:p.Val2226Phe
XM_011522537.2:c.6676G>T XP_011520839.1:p.Val2226Phe
XM_024450298.1:c.9718G>T XP_024306066.1:p.Val3240Phe
XM_024450299.1:c.9646G>T XP_024306067.1:p.Val3216Phe
XM_024450300.1:c.9508G>T XP_024306068.1:p.Val3170Phe
XM_024450301.1:c.7594G>T XP_024306069.1:p.Val2532Phe
XR_932867.1:n.9691G>T
XR_932868.1:n.9691G>T
XR_932869.1:n.9691G>T
XR_932870.1:n.9691G>T