Canonical Allele Identifier: CA493046775

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106587-G-T
• MyVariant Identifiers: chr16:g.2156588G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106587G>T , CM000678.2:g.2106587G>T	GRCh38
NC_000016.9:g.2156588G>T , CM000678.1:g.2156588G>T	GRCh37
NC_000016.8:g.2096589G>T	NCBI36
NG_008617.1:g.34312C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7300C>A MANE Select	ENSP00000262304.4:p.Arg2434=
ENST00000262304.8:c.7300C>A	ENSP00000262304.4:p.Arg2434=
ENST00000415938.7:n.545C>A
ENST00000423118.5:c.7300C>A	ENSP00000399501.1:p.Arg2434=
ENST00000483558.5:n.359C>A
ENST00000483731.5:n.1025C>A
ENST00000486339.6:n.1046C>A
ENST00000487932.5:c.1987C>A	ENSP00000457132.1:p.Arg663=
ENST00000496574.6:n.1303C>A
ENST00000565639.6:n.1008C>A
ENST00000568591.5:c.2461C>A	ENSP00000457162.1:n.2461C>A
ENST00000569983.5:n.656C>A
NM_000296.3:c.7300C>A	NP_000287.3:p.Arg2434=
NM_001009944.2:c.7300C>A	NP_001009944.2:p.Arg2434=
XM_005255370.2:c.4255C>A	XP_005255427.1:p.Arg1419=
XM_011522525.1:c.7378C>A	XP_011520827.1:p.Arg2460=
XM_011522526.1:c.7378C>A	XP_011520828.1:p.Arg2460=
XM_011522527.1:c.7378C>A	XP_011520829.1:p.Arg2460=
XM_011522528.1:c.7354C>A	XP_011520830.1:p.Arg2452=
XM_011522529.1:c.7354C>A	XP_011520831.1:p.Arg2452=
XM_011522530.1:c.7324C>A	XP_011520832.1:p.Arg2442=
XM_011522531.1:c.7306C>A	XP_011520833.1:p.Arg2436=
XM_011522532.1:c.7252C>A	XP_011520834.1:p.Arg2418=
XM_011522533.1:c.7171C>A	XP_011520835.1:p.Arg2391=
XM_011522534.1:c.7114C>A	XP_011520836.1:p.Arg2372=
XM_011522535.1:c.5200C>A	XP_011520837.1:p.Arg1734=
XM_011522536.1:c.7378C>A	XP_011520838.1:p.Arg2460=
XM_011522537.1:c.4378C>A	XP_011520839.1:p.Arg1460=
XR_932867.1:n.7393C>A
XR_932868.1:n.7393C>A
XR_932869.1:n.7393C>A
XR_932870.1:n.7393C>A
XM_005255370.3:c.4255C>A	XP_005255427.1:p.Arg1419=
XM_011522528.3:c.7354C>A	XP_011520830.1:p.Arg2452=
XM_011522529.2:c.7354C>A	XP_011520831.1:p.Arg2452=
XM_011522537.2:c.4378C>A	XP_011520839.1:p.Arg1460=
XM_024450298.1:c.7420C>A	XP_024306066.1:p.Arg2474=
XM_024450299.1:c.7348C>A	XP_024306067.1:p.Arg2450=
XM_024450300.1:c.7210C>A	XP_024306068.1:p.Arg2404=
XM_024450301.1:c.5296C>A	XP_024306069.1:p.Arg1766=
NM_000296.4:c.7300C>A	NP_000287.4:p.Arg2434=
NM_001009944.3:c.7300C>A MANE Select	NP_001009944.3:p.Arg2434=