Canonical Allele Identifier: CA394370320

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106583-C-A
• MyVariant Identifiers: chr16:g.2156584C>A (hg19) ; chr16:g.2106583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106583C>A , CM000678.2:g.2106583C>A	GRCh38
NC_000016.9:g.2156584C>A , CM000678.1:g.2156584C>A	GRCh37
NC_000016.8:g.2096585C>A	NCBI36
NG_008617.1:g.34316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7304G>T MANE Select	ENSP00000262304.4:p.Arg2435Leu
ENST00000262304.8:c.7304G>T	ENSP00000262304.4:p.Arg2435Leu
ENST00000415938.7:n.549G>T
ENST00000423118.5:c.7304G>T	ENSP00000399501.1:p.Arg2435Leu
ENST00000483558.5:n.363G>T
ENST00000483731.5:n.1029G>T
ENST00000486339.6:n.1050G>T
ENST00000487932.5:c.1991G>T	ENSP00000457132.1:p.Arg664Leu
ENST00000496574.6:n.1307G>T
ENST00000565639.6:n.1012G>T
ENST00000568591.5:c.2465G>T	ENSP00000457162.1:n.2465G>T
ENST00000569983.5:n.660G>T
NM_000296.3:c.7304G>T	NP_000287.3:p.Arg2435Leu
NM_001009944.2:c.7304G>T	NP_001009944.2:p.Arg2435Leu
XM_005255370.2:c.4259G>T	XP_005255427.1:p.Arg1420Leu
XM_011522525.1:c.7382G>T	XP_011520827.1:p.Arg2461Leu
XM_011522526.1:c.7382G>T	XP_011520828.1:p.Arg2461Leu
XM_011522527.1:c.7382G>T	XP_011520829.1:p.Arg2461Leu
XM_011522528.1:c.7358G>T	XP_011520830.1:p.Arg2453Leu
XM_011522529.1:c.7358G>T	XP_011520831.1:p.Arg2453Leu
XM_011522530.1:c.7328G>T	XP_011520832.1:p.Arg2443Leu
XM_011522531.1:c.7310G>T	XP_011520833.1:p.Arg2437Leu
XM_011522532.1:c.7256G>T	XP_011520834.1:p.Arg2419Leu
XM_011522533.1:c.7175G>T	XP_011520835.1:p.Arg2392Leu
XM_011522534.1:c.7118G>T	XP_011520836.1:p.Arg2373Leu
XM_011522535.1:c.5204G>T	XP_011520837.1:p.Arg1735Leu
XM_011522536.1:c.7382G>T	XP_011520838.1:p.Arg2461Leu
XM_011522537.1:c.4382G>T	XP_011520839.1:p.Arg1461Leu
XR_932867.1:n.7397G>T
XR_932868.1:n.7397G>T
XR_932869.1:n.7397G>T
XR_932870.1:n.7397G>T
XM_005255370.3:c.4259G>T	XP_005255427.1:p.Arg1420Leu
XM_011522528.3:c.7358G>T	XP_011520830.1:p.Arg2453Leu
XM_011522529.2:c.7358G>T	XP_011520831.1:p.Arg2453Leu
XM_011522537.2:c.4382G>T	XP_011520839.1:p.Arg1461Leu
XM_024450298.1:c.7424G>T	XP_024306066.1:p.Arg2475Leu
XM_024450299.1:c.7352G>T	XP_024306067.1:p.Arg2451Leu
XM_024450300.1:c.7214G>T	XP_024306068.1:p.Arg2405Leu
XM_024450301.1:c.5300G>T	XP_024306069.1:p.Arg1767Leu
NM_000296.4:c.7304G>T	NP_000287.4:p.Arg2435Leu
NM_001009944.3:c.7304G>T MANE Select	NP_001009944.3:p.Arg2435Leu