Canonical Allele Identifier: CA394346793
Community Standard Title: NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2097418G>A , CM000678.2:g.2097418G>A GRCh38
NC_000016.9:g.2147419G>A , CM000678.1:g.2147419G>A GRCh37
NC_000016.8:g.2087420G>A NCBI36
NG_008617.1:g.45803C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.10306C>T MANE Select NP_001009944.3:p.Gln3436Ter
ENST00000262304.9:c.10306C>T MANE Select ENSP00000262304.4:p.Gln3436Ter
NM_000296.3:c.10303C>T NP_000287.3:p.Gln3435Ter
NM_000296.4:c.10303C>T NP_000287.4:p.Gln3435Ter
NM_001009944.2:c.10306C>T NP_001009944.2:p.Gln3436Ter
ENST00000262304.8:c.10306C>T ENSP00000262304.4:p.Gln3436Ter
ENST00000423118.5:c.10303C>T ENSP00000399501.1:p.Gln3435Ter
ENST00000487932.5:c.4868C>T ENSP00000457132.1:n.4868C>T
XM_005255370.2:c.7261C>T XP_005255427.1:p.Gln2421Ter
XM_005255370.3:c.7261C>T XP_005255427.1:p.Gln2421Ter
XM_011522525.1:c.10384C>T XP_011520827.1:p.Gln3462Ter
XM_011522526.1:c.10381C>T XP_011520828.1:p.Gln3461Ter
XM_011522527.1:c.10366C>T XP_011520829.1:p.Gln3456Ter
XM_011522528.1:c.10360C>T XP_011520830.1:p.Gln3454Ter
XM_011522528.3:c.10360C>T XP_011520830.1:p.Gln3454Ter
XM_011522529.1:c.10357C>T XP_011520831.1:p.Gln3453Ter
XM_011522529.2:c.10357C>T XP_011520831.1:p.Gln3453Ter
XM_011522530.1:c.10330C>T XP_011520832.1:p.Gln3444Ter
XM_011522531.1:c.10312C>T XP_011520833.1:p.Gln3438Ter
XM_011522532.1:c.10258C>T XP_011520834.1:p.Gln3420Ter
XM_011522533.1:c.10177C>T XP_011520835.1:p.Gln3393Ter
XM_011522534.1:c.10120C>T XP_011520836.1:p.Gln3374Ter
XM_011522535.1:c.8206C>T XP_011520837.1:p.Gln2736Ter
XM_011522537.1:c.7384C>T XP_011520839.1:p.Gln2462Ter
XM_011522537.2:c.7384C>T XP_011520839.1:p.Gln2462Ter
XM_024450298.1:c.10426C>T XP_024306066.1:p.Gln3476Ter
XM_024450299.1:c.10354C>T XP_024306067.1:p.Gln3452Ter
XM_024450300.1:c.10216C>T XP_024306068.1:p.Gln3406Ter
XM_024450301.1:c.8302C>T XP_024306069.1:p.Gln2768Ter
XR_932867.1:n.10399C>T
XR_932868.1:n.10399C>T
XR_932869.1:n.10399C>T
XR_932870.1:n.10399C>T