Canonical Allele Identifier: CA7829259

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs773289901
• ExAC: 16:2142541 C / T
• gnomAD v2: 16-2142541-C-T
• gnomAD v3: 16-2092540-C-T
• gnomAD v4: 16-2092540-C-T
• MyVariant Identifiers: chr16:g.2142541C>T (hg19) ; chr16:g.2092540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092540C>T , CM000678.2:g.2092540C>T	GRCh38
NC_000016.9:g.2142541C>T , CM000678.1:g.2142541C>T	GRCh37
NC_000016.8:g.2082542C>T	NCBI36
NG_008617.1:g.50681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11209G>A (PKD1) MANE Select	ENSP00000262304.4:p.Gly3737Arg
ENST00000262304.8:c.11209G>A (PKD1)	ENSP00000262304.4:p.Gly3737Arg
ENST00000423118.5:c.11206G>A (PKD1)	ENSP00000399501.1:p.Gly3736Arg
ENST00000485120.1:n.58G>A (PKD1)
ENST00000487932.5:c.5771G>A (PKD1)	ENSP00000457132.1:n.5771G>A
ENST00000562425.1:c.322G>A (PKD1)
ENST00000567355.1:n.372G>A (PKD1)
NM_000296.3:c.11206G>A (PKD1)	NP_000287.3:p.Gly3736Arg
NM_001009944.2:c.11209G>A (PKD1)	NP_001009944.2:p.Gly3737Arg
XM_005255370.2:c.8164G>A (PKD1)	XP_005255427.1:p.Gly2722Arg
XM_011522525.1:c.11287G>A (PKD1)	XP_011520827.1:p.Gly3763Arg
XM_011522526.1:c.11284G>A (PKD1)	XP_011520828.1:p.Gly3762Arg
XM_011522527.1:c.11269G>A (PKD1)	XP_011520829.1:p.Gly3757Arg
XM_011522528.1:c.11263G>A (PKD1)	XP_011520830.1:p.Gly3755Arg
XM_011522529.1:c.11260G>A (PKD1)	XP_011520831.1:p.Gly3754Arg
XM_011522530.1:c.11233G>A (PKD1)	XP_011520832.1:p.Gly3745Arg
XM_011522531.1:c.11215G>A (PKD1)	XP_011520833.1:p.Gly3739Arg
XM_011522532.1:c.11161G>A (PKD1)	XP_011520834.1:p.Gly3721Arg
XM_011522533.1:c.11080G>A (PKD1)	XP_011520835.1:p.Gly3694Arg
XM_011522534.1:c.11023G>A (PKD1)	XP_011520836.1:p.Gly3675Arg
XM_011522535.1:c.9109G>A (PKD1)	XP_011520837.1:p.Gly3037Arg
XM_011522537.1:c.8287G>A (PKD1)	XP_011520839.1:p.Gly2763Arg
XR_932867.1:n.11302G>A (PKD1)
XR_932868.1:n.11110-352G>A (PKD1)
XR_932869.1:n.11110-352G>A (PKD1)
XR_932870.1:n.11162G>A (PKD1)
XR_933000.1:n.90-349C>T (PKD1-AS1)
XR_933001.1:n.180-349C>T (PKD1-AS1)
XR_933002.1:n.89-349C>T (PKD1-AS1)
XR_933003.1:n.89-349C>T (PKD1-AS1)
NR_135175.1:n.180-349C>T (PKD1-AS1)
XM_005255370.3:c.8164G>A (PKD1)	XP_005255427.1:p.Gly2722Arg
XM_011522528.3:c.11263G>A (PKD1)	XP_011520830.1:p.Gly3755Arg
XM_011522529.2:c.11260G>A (PKD1)	XP_011520831.1:p.Gly3754Arg
XM_011522537.2:c.8287G>A (PKD1)	XP_011520839.1:p.Gly2763Arg
XM_024450298.1:c.11329G>A (PKD1)	XP_024306066.1:p.Gly3777Arg
XM_024450299.1:c.11257G>A (PKD1)	XP_024306067.1:p.Gly3753Arg
XM_024450300.1:c.11119G>A (PKD1)	XP_024306068.1:p.Gly3707Arg
XM_024450301.1:c.9205G>A (PKD1)	XP_024306069.1:p.Gly3069Arg
NM_000296.4:c.11206G>A (PKD1)	NP_000287.4:p.Gly3736Arg
NM_001009944.3:c.11209G>A (PKD1) MANE Select	NP_001009944.3:p.Gly3737Arg