Canonical Allele Identifier: CA7829997
Community Standard Title: NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100258G>A , CM000678.2:g.2100258G>A GRCh38
NC_000016.9:g.2150259G>A , CM000678.1:g.2150259G>A GRCh37
NC_000016.8:g.2090260G>A NCBI36
NG_008617.1:g.42963C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9620C>T MANE Select NP_001009944.3:p.Thr3207Met
ENST00000262304.9:c.9620C>T MANE Select ENSP00000262304.4:p.Thr3207Met
NM_000296.3:c.9620C>T NP_000287.3:p.Thr3207Met
NM_000296.4:c.9620C>T NP_000287.4:p.Thr3207Met
NM_001009944.2:c.9620C>T NP_001009944.2:p.Thr3207Met
ENST00000262304.8:c.9620C>T ENSP00000262304.4:p.Thr3207Met
ENST00000415938.7:n.2699C>T
ENST00000423118.5:c.9620C>T ENSP00000399501.1:p.Thr3207Met
ENST00000469851.1:n.429C>T
ENST00000471603.6:n.1264C>T
ENST00000480227.5:n.1357C>T
ENST00000483731.5:n.3506C>T
ENST00000483814.1:n.422C>T
ENST00000486339.6:n.3756C>T
ENST00000487932.5:c.4182C>T ENSP00000457132.1:n.4182C>T
ENST00000496574.6:n.3856C>T
ENST00000562297.5:n.1353C>T
ENST00000566905.5:n.110C>T
ENST00000567946.1:c.1222C>T
ENST00000570193.5:n.64C>T
ENST00000570253.5:n.43C>T
XM_005255370.2:c.6575C>T XP_005255427.1:p.Thr2192Met
XM_005255370.3:c.6575C>T XP_005255427.1:p.Thr2192Met
XM_011522525.1:c.9698C>T XP_011520827.1:p.Thr3233Met
XM_011522526.1:c.9698C>T XP_011520828.1:p.Thr3233Met
XM_011522527.1:c.9680C>T XP_011520829.1:p.Thr3227Met
XM_011522528.1:c.9674C>T XP_011520830.1:p.Thr3225Met
XM_011522528.3:c.9674C>T XP_011520830.1:p.Thr3225Met
XM_011522529.1:c.9674C>T XP_011520831.1:p.Thr3225Met
XM_011522529.2:c.9674C>T XP_011520831.1:p.Thr3225Met
XM_011522530.1:c.9644C>T XP_011520832.1:p.Thr3215Met
XM_011522531.1:c.9626C>T XP_011520833.1:p.Thr3209Met
XM_011522532.1:c.9572C>T XP_011520834.1:p.Thr3191Met
XM_011522533.1:c.9491C>T XP_011520835.1:p.Thr3164Met
XM_011522534.1:c.9434C>T XP_011520836.1:p.Thr3145Met
XM_011522535.1:c.7520C>T XP_011520837.1:p.Thr2507Met
XM_011522536.1:c.9698C>T XP_011520838.1:p.Thr3233Met
XM_011522537.1:c.6698C>T XP_011520839.1:p.Thr2233Met
XM_011522537.2:c.6698C>T XP_011520839.1:p.Thr2233Met
XM_024450298.1:c.9740C>T XP_024306066.1:p.Thr3247Met
XM_024450299.1:c.9668C>T XP_024306067.1:p.Thr3223Met
XM_024450300.1:c.9530C>T XP_024306068.1:p.Thr3177Met
XM_024450301.1:c.7616C>T XP_024306069.1:p.Thr2539Met
XR_932867.1:n.9713C>T
XR_932868.1:n.9713C>T
XR_932869.1:n.9713C>T
XR_932870.1:n.9713C>T