Canonical Allele Identifier: CA2202035292
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106601A= , CM000678.2:g.2106601A= GRCh38
NC_000016.9:g.2156602A= , CM000678.1:g.2156602A= GRCh37
NC_000016.8:g.2096603A= NCBI36
NG_008617.1:g.34298T=

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.7286T= MANE Select ENSP00000262304.4:p.Met2429=
ENST00000262304.8:c.7286T= ENSP00000262304.4:p.Met2429=
ENST00000415938.7:n.531T=
ENST00000423118.5:c.7286T= ENSP00000399501.1:p.Met2429=
ENST00000483024.1:c.454T=
ENST00000483558.5:n.345T=
ENST00000483731.5:n.1011T=
ENST00000486339.6:n.1032T=
ENST00000487932.5:c.1973T= ENSP00000457132.1:p.Met658=
ENST00000496574.6:n.1289T=
ENST00000565639.6:n.994T=
ENST00000568591.5:c.2447T= ENSP00000457162.1:n.2447T=
ENST00000569983.5:n.642T=
NM_000296.3:c.7286T= NP_000287.3:p.Met2429=
NM_001009944.2:c.7286T= NP_001009944.2:p.Met2429=
XM_005255370.2:c.4241T= XP_005255427.1:p.Met1414=
XM_011522525.1:c.7364T= XP_011520827.1:p.Met2455=
XM_011522526.1:c.7364T= XP_011520828.1:p.Met2455=
XM_011522527.1:c.7364T= XP_011520829.1:p.Met2455=
XM_011522528.1:c.7340T= XP_011520830.1:p.Met2447=
XM_011522529.1:c.7340T= XP_011520831.1:p.Met2447=
XM_011522530.1:c.7310T= XP_011520832.1:p.Met2437=
XM_011522531.1:c.7292T= XP_011520833.1:p.Met2431=
XM_011522532.1:c.7238T= XP_011520834.1:p.Met2413=
XM_011522533.1:c.7157T= XP_011520835.1:p.Met2386=
XM_011522534.1:c.7100T= XP_011520836.1:p.Met2367=
XM_011522535.1:c.5186T= XP_011520837.1:p.Met1729=
XM_011522536.1:c.7364T= XP_011520838.1:p.Met2455=
XM_011522537.1:c.4364T= XP_011520839.1:p.Met1455=
XR_932867.1:n.7379T=
XR_932868.1:n.7379T=
XR_932869.1:n.7379T=
XR_932870.1:n.7379T=
XM_005255370.3:c.4241T= XP_005255427.1:p.Met1414=
XM_011522528.3:c.7340T= XP_011520830.1:p.Met2447=
XM_011522529.2:c.7340T= XP_011520831.1:p.Met2447=
XM_011522537.2:c.4364T= XP_011520839.1:p.Met1455=
XM_024450298.1:c.7406T= XP_024306066.1:p.Met2469=
XM_024450299.1:c.7334T= XP_024306067.1:p.Met2445=
XM_024450300.1:c.7196T= XP_024306068.1:p.Met2399=
XM_024450301.1:c.5282T= XP_024306069.1:p.Met1761=
NM_000296.4:c.7286T= NP_000287.4:p.Met2429=
NM_001009944.3:c.7286T= MANE Select NP_001009944.3:p.Met2429=