Canonical Allele Identifier: CA394370009

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106523-C-A
• MyVariant Identifiers: chr16:g.2156524C>A (hg19) ; chr16:g.2106523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106523C>A , CM000678.2:g.2106523C>A	GRCh38
NC_000016.9:g.2156524C>A , CM000678.1:g.2156524C>A	GRCh37
NC_000016.8:g.2096525C>A	NCBI36
NG_008617.1:g.34376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7364G>T MANE Select	ENSP00000262304.4:p.Gly2455Val
ENST00000262304.8:c.7364G>T	ENSP00000262304.4:p.Gly2455Val
ENST00000415938.7:n.609G>T
ENST00000423118.5:c.7364G>T	ENSP00000399501.1:p.Gly2455Val
ENST00000483558.5:n.423G>T
ENST00000483731.5:n.1089G>T
ENST00000486339.6:n.1110G>T
ENST00000487932.5:c.2051G>T	ENSP00000457132.1:p.Gly684Val
ENST00000496574.6:n.1367G>T
ENST00000565639.6:n.1072G>T
ENST00000568591.5:c.2525G>T	ENSP00000457162.1:n.2525G>T
ENST00000569983.5:n.720G>T
NM_000296.3:c.7364G>T	NP_000287.3:p.Gly2455Val
NM_001009944.2:c.7364G>T	NP_001009944.2:p.Gly2455Val
XM_005255370.2:c.4319G>T	XP_005255427.1:p.Gly1440Val
XM_011522525.1:c.7442G>T	XP_011520827.1:p.Gly2481Val
XM_011522526.1:c.7442G>T	XP_011520828.1:p.Gly2481Val
XM_011522527.1:c.7442G>T	XP_011520829.1:p.Gly2481Val
XM_011522528.1:c.7418G>T	XP_011520830.1:p.Gly2473Val
XM_011522529.1:c.7418G>T	XP_011520831.1:p.Gly2473Val
XM_011522530.1:c.7388G>T	XP_011520832.1:p.Gly2463Val
XM_011522531.1:c.7370G>T	XP_011520833.1:p.Gly2457Val
XM_011522532.1:c.7316G>T	XP_011520834.1:p.Gly2439Val
XM_011522533.1:c.7235G>T	XP_011520835.1:p.Gly2412Val
XM_011522534.1:c.7178G>T	XP_011520836.1:p.Gly2393Val
XM_011522535.1:c.5264G>T	XP_011520837.1:p.Gly1755Val
XM_011522536.1:c.7442G>T	XP_011520838.1:p.Gly2481Val
XM_011522537.1:c.4442G>T	XP_011520839.1:p.Gly1481Val
XR_932867.1:n.7457G>T
XR_932868.1:n.7457G>T
XR_932869.1:n.7457G>T
XR_932870.1:n.7457G>T
XM_005255370.3:c.4319G>T	XP_005255427.1:p.Gly1440Val
XM_011522528.3:c.7418G>T	XP_011520830.1:p.Gly2473Val
XM_011522529.2:c.7418G>T	XP_011520831.1:p.Gly2473Val
XM_011522537.2:c.4442G>T	XP_011520839.1:p.Gly1481Val
XM_024450298.1:c.7484G>T	XP_024306066.1:p.Gly2495Val
XM_024450299.1:c.7412G>T	XP_024306067.1:p.Gly2471Val
XM_024450300.1:c.7274G>T	XP_024306068.1:p.Gly2425Val
XM_024450301.1:c.5360G>T	XP_024306069.1:p.Gly1787Val
NM_000296.4:c.7364G>T	NP_000287.4:p.Gly2455Val
NM_001009944.3:c.7364G>T MANE Select	NP_001009944.3:p.Gly2455Val