Canonical Allele Identifier: CA394370478

Gene: PKD1

Linked Data

• dbSNP Id: rs2151774923
• gnomAD v3: 16-2106613-C-T
• gnomAD v4: 16-2106613-C-T
• MyVariant Identifiers: chr16:g.2156614C>T (hg19) ; chr16:g.2106613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106613C>T , CM000678.2:g.2106613C>T	GRCh38
NC_000016.9:g.2156614C>T , CM000678.1:g.2156614C>T	GRCh37
NC_000016.8:g.2096615C>T	NCBI36
NG_008617.1:g.34286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7274G>A MANE Select	ENSP00000262304.4:p.Gly2425Asp
ENST00000262304.8:c.7274G>A	ENSP00000262304.4:p.Gly2425Asp
ENST00000415938.7:n.519G>A
ENST00000423118.5:c.7274G>A	ENSP00000399501.1:p.Gly2425Asp
ENST00000483024.1:c.442G>A
ENST00000483558.5:n.333G>A
ENST00000483731.5:n.999G>A
ENST00000486339.6:n.1020G>A
ENST00000487932.5:c.1961G>A	ENSP00000457132.1:p.Gly654Asp
ENST00000496574.6:n.1277G>A
ENST00000565639.6:n.982G>A
ENST00000568591.5:c.2435G>A	ENSP00000457162.1:n.2435G>A
ENST00000569983.5:n.630G>A
NM_000296.3:c.7274G>A	NP_000287.3:p.Gly2425Asp
NM_001009944.2:c.7274G>A	NP_001009944.2:p.Gly2425Asp
XM_005255370.2:c.4229G>A	XP_005255427.1:p.Gly1410Asp
XM_011522525.1:c.7352G>A	XP_011520827.1:p.Gly2451Asp
XM_011522526.1:c.7352G>A	XP_011520828.1:p.Gly2451Asp
XM_011522527.1:c.7352G>A	XP_011520829.1:p.Gly2451Asp
XM_011522528.1:c.7328G>A	XP_011520830.1:p.Gly2443Asp
XM_011522529.1:c.7328G>A	XP_011520831.1:p.Gly2443Asp
XM_011522530.1:c.7298G>A	XP_011520832.1:p.Gly2433Asp
XM_011522531.1:c.7280G>A	XP_011520833.1:p.Gly2427Asp
XM_011522532.1:c.7226G>A	XP_011520834.1:p.Gly2409Asp
XM_011522533.1:c.7145G>A	XP_011520835.1:p.Gly2382Asp
XM_011522534.1:c.7088G>A	XP_011520836.1:p.Gly2363Asp
XM_011522535.1:c.5174G>A	XP_011520837.1:p.Gly1725Asp
XM_011522536.1:c.7352G>A	XP_011520838.1:p.Gly2451Asp
XM_011522537.1:c.4352G>A	XP_011520839.1:p.Gly1451Asp
XR_932867.1:n.7367G>A
XR_932868.1:n.7367G>A
XR_932869.1:n.7367G>A
XR_932870.1:n.7367G>A
XM_005255370.3:c.4229G>A	XP_005255427.1:p.Gly1410Asp
XM_011522528.3:c.7328G>A	XP_011520830.1:p.Gly2443Asp
XM_011522529.2:c.7328G>A	XP_011520831.1:p.Gly2443Asp
XM_011522537.2:c.4352G>A	XP_011520839.1:p.Gly1451Asp
XM_024450298.1:c.7394G>A	XP_024306066.1:p.Gly2465Asp
XM_024450299.1:c.7322G>A	XP_024306067.1:p.Gly2441Asp
XM_024450300.1:c.7184G>A	XP_024306068.1:p.Gly2395Asp
XM_024450301.1:c.5270G>A	XP_024306069.1:p.Gly1757Asp
NM_000296.4:c.7274G>A	NP_000287.4:p.Gly2425Asp
NM_001009944.3:c.7274G>A MANE Select	NP_001009944.3:p.Gly2425Asp