Canonical Allele Identifier: CA493046963

Gene: PKD1 MIR6511B1

Linked Data

• gnomAD v4: 16-2106675-C-T
• MyVariant Identifiers: chr16:g.2156676C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106675C>T , CM000678.2:g.2106675C>T	GRCh38
NC_000016.9:g.2156676C>T , CM000678.1:g.2156676C>T	GRCh37
NC_000016.8:g.2096677C>T	NCBI36
NG_008617.1:g.34224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7212G>A (PKD1) MANE Select	ENSP00000262304.4:p.Arg2404=
ENST00000262304.8:c.7212G>A (PKD1)	ENSP00000262304.4:p.Arg2404=
ENST00000415938.7:n.457G>A (PKD1)
ENST00000423118.5:c.7212G>A (PKD1)	ENSP00000399501.1:p.Arg2404=
ENST00000483024.1:c.380G>A (PKD1)
ENST00000483558.5:n.271G>A (PKD1)
ENST00000483731.5:n.937G>A (PKD1)
ENST00000486339.6:n.958G>A (PKD1)
ENST00000487932.5:c.1899G>A (PKD1)	ENSP00000457132.1:p.Arg633=
ENST00000496574.6:n.1215G>A (PKD1)
ENST00000565639.6:n.920G>A (PKD1)
ENST00000568591.5:c.2373G>A (PKD1)	ENSP00000457162.1:n.2373G>A
ENST00000569983.5:n.568G>A (PKD1)
NM_000296.3:c.7212G>A (PKD1)	NP_000287.3:p.Arg2404=
NM_001009944.2:c.7212G>A (PKD1)	NP_001009944.2:p.Arg2404=
NR_106775.1:n.79G>A (MIR6511B1)
XM_005255370.2:c.4167G>A (PKD1)	XP_005255427.1:p.Arg1389=
XM_011522525.1:c.7290G>A (PKD1)	XP_011520827.1:p.Arg2430=
XM_011522526.1:c.7290G>A (PKD1)	XP_011520828.1:p.Arg2430=
XM_011522527.1:c.7290G>A (PKD1)	XP_011520829.1:p.Arg2430=
XM_011522528.1:c.7266G>A (PKD1)	XP_011520830.1:p.Arg2422=
XM_011522529.1:c.7266G>A (PKD1)	XP_011520831.1:p.Arg2422=
XM_011522530.1:c.7236G>A (PKD1)	XP_011520832.1:p.Arg2412=
XM_011522531.1:c.7218G>A (PKD1)	XP_011520833.1:p.Arg2406=
XM_011522532.1:c.7164G>A (PKD1)	XP_011520834.1:p.Arg2388=
XM_011522533.1:c.7083G>A (PKD1)	XP_011520835.1:p.Arg2361=
XM_011522534.1:c.7026G>A (PKD1)	XP_011520836.1:p.Arg2342=
XM_011522535.1:c.5112G>A (PKD1)	XP_011520837.1:p.Arg1704=
XM_011522536.1:c.7290G>A (PKD1)	XP_011520838.1:p.Arg2430=
XM_011522537.1:c.4290G>A (PKD1)	XP_011520839.1:p.Arg1430=
XR_932867.1:n.7305G>A (PKD1)
XR_932868.1:n.7305G>A (PKD1)
XR_932869.1:n.7305G>A (PKD1)
XR_932870.1:n.7305G>A (PKD1)
XM_005255370.3:c.4167G>A (PKD1)	XP_005255427.1:p.Arg1389=
XM_011522528.3:c.7266G>A (PKD1)	XP_011520830.1:p.Arg2422=
XM_011522529.2:c.7266G>A (PKD1)	XP_011520831.1:p.Arg2422=
XM_011522537.2:c.4290G>A (PKD1)	XP_011520839.1:p.Arg1430=
XM_024450298.1:c.7332G>A (PKD1)	XP_024306066.1:p.Arg2444=
XM_024450299.1:c.7260G>A (PKD1)	XP_024306067.1:p.Arg2420=
XM_024450300.1:c.7122G>A (PKD1)	XP_024306068.1:p.Arg2374=
XM_024450301.1:c.5208G>A (PKD1)	XP_024306069.1:p.Arg1736=
NM_000296.4:c.7212G>A (PKD1)	NP_000287.4:p.Arg2404=
NM_001009944.3:c.7212G>A (PKD1) MANE Select	NP_001009944.3:p.Arg2404=