Canonical Allele Identifier: CA394361576

Gene: PKD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2102857G>A , CM000678.2:g.2102857G>A	GRCh38
NC_000016.9:g.2152858G>A , CM000678.1:g.2152858G>A	GRCh37
NC_000016.8:g.2092859G>A	NCBI36
NG_008617.1:g.40364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8905C>T MANE Select	ENSP00000262304.4:p.Gln2969Ter
ENST00000262304.8:c.8905C>T	ENSP00000262304.4:p.Gln2969Ter
ENST00000415938.7:n.1984C>T
ENST00000423118.5:c.8905C>T	ENSP00000399501.1:p.Gln2969Ter
ENST00000471603.6:n.549C>T
ENST00000474088.1:n.321C>T
ENST00000475889.1:n.214C>T
ENST00000480227.5:n.642C>T
ENST00000483731.5:n.2791C>T
ENST00000486339.6:n.3041C>T
ENST00000487932.5:c.3467C>T	ENSP00000457132.1:n.3467C>T
ENST00000496574.6:n.3141C>T
ENST00000562297.5:n.638C>T
ENST00000567946.1:c.507C>T
NM_000296.3:c.8905C>T	NP_000287.3:p.Gln2969Ter
NM_001009944.2:c.8905C>T	NP_001009944.2:p.Gln2969Ter
XM_005255370.2:c.5860C>T	XP_005255427.1:p.Gln1954Ter
XM_011522525.1:c.8983C>T	XP_011520827.1:p.Gln2995Ter
XM_011522526.1:c.8983C>T	XP_011520828.1:p.Gln2995Ter
XM_011522527.1:c.8983C>T	XP_011520829.1:p.Gln2995Ter
XM_011522528.1:c.8959C>T	XP_011520830.1:p.Gln2987Ter
XM_011522529.1:c.8959C>T	XP_011520831.1:p.Gln2987Ter
XM_011522530.1:c.8929C>T	XP_011520832.1:p.Gln2977Ter
XM_011522531.1:c.8911C>T	XP_011520833.1:p.Gln2971Ter
XM_011522532.1:c.8857C>T	XP_011520834.1:p.Gln2953Ter
XM_011522533.1:c.8776C>T	XP_011520835.1:p.Gln2926Ter
XM_011522534.1:c.8719C>T	XP_011520836.1:p.Gln2907Ter
XM_011522535.1:c.6805C>T	XP_011520837.1:p.Gln2269Ter
XM_011522536.1:c.8983C>T	XP_011520838.1:p.Gln2995Ter
XM_011522537.1:c.5983C>T	XP_011520839.1:p.Gln1995Ter
XR_932867.1:n.8998C>T
XR_932868.1:n.8998C>T
XR_932869.1:n.8998C>T
XR_932870.1:n.8998C>T
XM_005255370.3:c.5860C>T	XP_005255427.1:p.Gln1954Ter
XM_011522528.3:c.8959C>T	XP_011520830.1:p.Gln2987Ter
XM_011522529.2:c.8959C>T	XP_011520831.1:p.Gln2987Ter
XM_011522537.2:c.5983C>T	XP_011520839.1:p.Gln1995Ter
XM_024450298.1:c.9025C>T	XP_024306066.1:p.Gln3009Ter
XM_024450299.1:c.8953C>T	XP_024306067.1:p.Gln2985Ter
XM_024450300.1:c.8815C>T	XP_024306068.1:p.Gln2939Ter
XM_024450301.1:c.6901C>T	XP_024306069.1:p.Gln2301Ter
NM_000296.4:c.8905C>T	NP_000287.4:p.Gln2969Ter
NM_001009944.3:c.8905C>T MANE Select	NP_001009944.3:p.Gln2969Ter