Canonical Allele Identifier: CA394366122
Community Standard Title: NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2105411G>A , CM000678.2:g.2105411G>A GRCh38
NC_000016.9:g.2155412G>A , CM000678.1:g.2155412G>A GRCh37
NC_000016.8:g.2095413G>A NCBI36
NG_008617.1:g.35488C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.7927C>T MANE Select NP_001009944.3:p.Arg2643Cys
ENST00000262304.9:c.7927C>T MANE Select ENSP00000262304.4:p.Arg2643Cys
NM_000296.3:c.7927C>T NP_000287.3:p.Arg2643Cys
NM_000296.4:c.7927C>T NP_000287.4:p.Arg2643Cys
NM_001009944.2:c.7927C>T NP_001009944.2:p.Arg2643Cys
ENST00000262304.8:c.7927C>T ENSP00000262304.4:p.Arg2643Cys
ENST00000415938.7:n.1172C>T
ENST00000423118.5:c.7927C>T ENSP00000399501.1:p.Arg2643Cys
ENST00000483731.5:n.1652C>T
ENST00000486339.6:n.2063C>T
ENST00000487932.5:c.2614C>T ENSP00000457132.1:p.Arg872Cys
ENST00000496574.6:n.2163C>T
ENST00000561991.5:n.449C>T
ENST00000564865.5:n.426C>T
ENST00000564890.1:n.541C>T
ENST00000565639.6:n.1635C>T
XM_005255370.2:c.4882C>T XP_005255427.1:p.Arg1628Cys
XM_005255370.3:c.4882C>T XP_005255427.1:p.Arg1628Cys
XM_011522525.1:c.8005C>T XP_011520827.1:p.Arg2669Cys
XM_011522526.1:c.8005C>T XP_011520828.1:p.Arg2669Cys
XM_011522527.1:c.8005C>T XP_011520829.1:p.Arg2669Cys
XM_011522528.1:c.7981C>T XP_011520830.1:p.Arg2661Cys
XM_011522528.3:c.7981C>T XP_011520830.1:p.Arg2661Cys
XM_011522529.1:c.7981C>T XP_011520831.1:p.Arg2661Cys
XM_011522529.2:c.7981C>T XP_011520831.1:p.Arg2661Cys
XM_011522530.1:c.7951C>T XP_011520832.1:p.Arg2651Cys
XM_011522531.1:c.7933C>T XP_011520833.1:p.Arg2645Cys
XM_011522532.1:c.7879C>T XP_011520834.1:p.Arg2627Cys
XM_011522533.1:c.7798C>T XP_011520835.1:p.Arg2600Cys
XM_011522534.1:c.7741C>T XP_011520836.1:p.Arg2581Cys
XM_011522535.1:c.5827C>T XP_011520837.1:p.Arg1943Cys
XM_011522536.1:c.8005C>T XP_011520838.1:p.Arg2669Cys
XM_011522537.1:c.5005C>T XP_011520839.1:p.Arg1669Cys
XM_011522537.2:c.5005C>T XP_011520839.1:p.Arg1669Cys
XM_024450298.1:c.8047C>T XP_024306066.1:p.Arg2683Cys
XM_024450299.1:c.7975C>T XP_024306067.1:p.Arg2659Cys
XM_024450300.1:c.7837C>T XP_024306068.1:p.Arg2613Cys
XM_024450301.1:c.5923C>T XP_024306069.1:p.Arg1975Cys
XR_932867.1:n.8020C>T
XR_932868.1:n.8020C>T
XR_932869.1:n.8020C>T
XR_932870.1:n.8020C>T