Canonical Allele Identifier: CA2202045454
Community Standard Title: NM_001009944.3(PKD1):c.6913C= (p.Gln2305=)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2108254G= , CM000678.2:g.2108254G= GRCh38
NC_000016.9:g.2158255G= , CM000678.1:g.2158255G= GRCh37
NC_000016.8:g.2098256G= NCBI36
NG_008617.1:g.32645C=

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.6913C= MANE Select NP_001009944.3:p.Gln2305=
ENST00000262304.9:c.6913C= MANE Select ENSP00000262304.4:p.Gln2305=
NM_000296.3:c.6913C= NP_000287.3:p.Gln2305=
NM_000296.4:c.6913C= NP_000287.4:p.Gln2305=
NM_001009944.2:c.6913C= NP_001009944.2:p.Gln2305=
ENST00000262304.8:c.6913C= ENSP00000262304.4:p.Gln2305=
ENST00000415938.7:n.311-1306C=
ENST00000423118.5:c.6913C= ENSP00000399501.1:p.Gln2305=
ENST00000473780.2:n.295C=
ENST00000483024.1:c.234-1306C=
ENST00000483731.5:n.791-1306C=
ENST00000487932.5:c.1600C= ENSP00000457132.1:p.Gln534=
ENST00000488185.2:c.577C=
ENST00000565639.6:n.774-1306C=
ENST00000568591.5:c.2227-1306C= ENSP00000457162.1:n.2227-1306C=
ENST00000569983.5:n.422-1306C=
XM_005255370.2:c.3868C= XP_005255427.1:p.Gln1290=
XM_005255370.3:c.3868C= XP_005255427.1:p.Gln1290=
XM_011522525.1:c.6991C= XP_011520827.1:p.Gln2331=
XM_011522526.1:c.6991C= XP_011520828.1:p.Gln2331=
XM_011522527.1:c.6991C= XP_011520829.1:p.Gln2331=
XM_011522528.1:c.6967C= XP_011520830.1:p.Gln2323=
XM_011522528.3:c.6967C= XP_011520830.1:p.Gln2323=
XM_011522529.1:c.6967C= XP_011520831.1:p.Gln2323=
XM_011522529.2:c.6967C= XP_011520831.1:p.Gln2323=
XM_011522530.1:c.6937C= XP_011520832.1:p.Gln2313=
XM_011522531.1:c.6919C= XP_011520833.1:p.Gln2307=
XM_011522532.1:c.6865C= XP_011520834.1:p.Gln2289=
XM_011522533.1:c.6784C= XP_011520835.1:p.Gln2262=
XM_011522534.1:c.6727C= XP_011520836.1:p.Gln2243=
XM_011522535.1:c.4813C= XP_011520837.1:p.Gln1605=
XM_011522536.1:c.6991C= XP_011520838.1:p.Gln2331=
XM_011522537.1:c.3991C= XP_011520839.1:p.Gln1331=
XM_011522537.2:c.3991C= XP_011520839.1:p.Gln1331=
XM_024450298.1:c.7033C= XP_024306066.1:p.Gln2345=
XM_024450299.1:c.6961C= XP_024306067.1:p.Gln2321=
XM_024450300.1:c.6823C= XP_024306068.1:p.Gln2275=
XM_024450301.1:c.4909C= XP_024306069.1:p.Gln1637=
XR_932867.1:n.7006C=
XR_932868.1:n.7006C=
XR_932869.1:n.7006C=
XR_932870.1:n.7006C=