Canonical Allele Identifier: CA394371426
Community Standard Title: NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106810G>A , CM000678.2:g.2106810G>A GRCh38
NC_000016.9:g.2156811G>A , CM000678.1:g.2156811G>A GRCh37
NC_000016.8:g.2096812G>A NCBI36
NG_008617.1:g.34089C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.7204C>T MANE Select NP_001009944.3:p.Arg2402Ter
ENST00000262304.9:c.7204C>T MANE Select ENSP00000262304.4:p.Arg2402Ter
NM_000296.3:c.7204C>T NP_000287.3:p.Arg2402Ter
NM_000296.4:c.7204C>T NP_000287.4:p.Arg2402Ter
NM_001009944.2:c.7204C>T NP_001009944.2:p.Arg2402Ter
ENST00000262304.8:c.7204C>T ENSP00000262304.4:p.Arg2402Ter
ENST00000415938.7:n.449C>T
ENST00000423118.5:c.7204C>T ENSP00000399501.1:p.Arg2402Ter
ENST00000483024.1:c.372C>T
ENST00000483558.5:n.263C>T
ENST00000483731.5:n.929C>T
ENST00000486339.6:n.950C>T
ENST00000487932.5:c.1891C>T ENSP00000457132.1:p.Arg631Ter
ENST00000496574.6:n.1207C>T
ENST00000565639.6:n.912C>T
ENST00000568591.5:c.2365C>T ENSP00000457162.1:n.2365C>T
ENST00000569983.5:n.560C>T
XM_005255370.2:c.4159C>T XP_005255427.1:p.Arg1387Ter
XM_005255370.3:c.4159C>T XP_005255427.1:p.Arg1387Ter
XM_011522525.1:c.7282C>T XP_011520827.1:p.Arg2428Ter
XM_011522526.1:c.7282C>T XP_011520828.1:p.Arg2428Ter
XM_011522527.1:c.7282C>T XP_011520829.1:p.Arg2428Ter
XM_011522528.1:c.7258C>T XP_011520830.1:p.Arg2420Ter
XM_011522528.3:c.7258C>T XP_011520830.1:p.Arg2420Ter
XM_011522529.1:c.7258C>T XP_011520831.1:p.Arg2420Ter
XM_011522529.2:c.7258C>T XP_011520831.1:p.Arg2420Ter
XM_011522530.1:c.7228C>T XP_011520832.1:p.Arg2410Ter
XM_011522531.1:c.7210C>T XP_011520833.1:p.Arg2404Ter
XM_011522532.1:c.7156C>T XP_011520834.1:p.Arg2386Ter
XM_011522533.1:c.7075C>T XP_011520835.1:p.Arg2359Ter
XM_011522534.1:c.7018C>T XP_011520836.1:p.Arg2340Ter
XM_011522535.1:c.5104C>T XP_011520837.1:p.Arg1702Ter
XM_011522536.1:c.7282C>T XP_011520838.1:p.Arg2428Ter
XM_011522537.1:c.4282C>T XP_011520839.1:p.Arg1428Ter
XM_011522537.2:c.4282C>T XP_011520839.1:p.Arg1428Ter
XM_024450298.1:c.7324C>T XP_024306066.1:p.Arg2442Ter
XM_024450299.1:c.7252C>T XP_024306067.1:p.Arg2418Ter
XM_024450300.1:c.7114C>T XP_024306068.1:p.Arg2372Ter
XM_024450301.1:c.5200C>T XP_024306069.1:p.Arg1734Ter
XR_932867.1:n.7297C>T
XR_932868.1:n.7297C>T
XR_932869.1:n.7297C>T
XR_932870.1:n.7297C>T