Canonical Allele Identifier: CA492962475

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092538-C-T
• COSMIC: COSM702342
• MyVariant Identifiers: chr16:g.2142539C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092538C>T , CM000678.2:g.2092538C>T	GRCh38
NC_000016.9:g.2142539C>T , CM000678.1:g.2142539C>T	GRCh37
NC_000016.8:g.2082540C>T	NCBI36
NG_008617.1:g.50683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11211G>A (PKD1) MANE Select	ENSP00000262304.4:p.Gly3737=
ENST00000262304.8:c.11211G>A (PKD1)	ENSP00000262304.4:p.Gly3737=
ENST00000423118.5:c.11208G>A (PKD1)	ENSP00000399501.1:p.Gly3736=
ENST00000485120.1:n.60G>A (PKD1)
ENST00000487932.5:c.5773G>A (PKD1)	ENSP00000457132.1:n.5773G>A
ENST00000562425.1:c.324G>A (PKD1)
ENST00000567355.1:n.374G>A (PKD1)
NM_000296.3:c.11208G>A (PKD1)	NP_000287.3:p.Gly3736=
NM_001009944.2:c.11211G>A (PKD1)	NP_001009944.2:p.Gly3737=
XM_005255370.2:c.8166G>A (PKD1)	XP_005255427.1:p.Gly2722=
XM_011522525.1:c.11289G>A (PKD1)	XP_011520827.1:p.Gly3763=
XM_011522526.1:c.11286G>A (PKD1)	XP_011520828.1:p.Gly3762=
XM_011522527.1:c.11271G>A (PKD1)	XP_011520829.1:p.Gly3757=
XM_011522528.1:c.11265G>A (PKD1)	XP_011520830.1:p.Gly3755=
XM_011522529.1:c.11262G>A (PKD1)	XP_011520831.1:p.Gly3754=
XM_011522530.1:c.11235G>A (PKD1)	XP_011520832.1:p.Gly3745=
XM_011522531.1:c.11217G>A (PKD1)	XP_011520833.1:p.Gly3739=
XM_011522532.1:c.11163G>A (PKD1)	XP_011520834.1:p.Gly3721=
XM_011522533.1:c.11082G>A (PKD1)	XP_011520835.1:p.Gly3694=
XM_011522534.1:c.11025G>A (PKD1)	XP_011520836.1:p.Gly3675=
XM_011522535.1:c.9111G>A (PKD1)	XP_011520837.1:p.Gly3037=
XM_011522537.1:c.8289G>A (PKD1)	XP_011520839.1:p.Gly2763=
XR_932867.1:n.11304G>A (PKD1)
XR_932868.1:n.11110-350G>A (PKD1)
XR_932869.1:n.11110-350G>A (PKD1)
XR_932870.1:n.11164G>A (PKD1)
XR_933000.1:n.90-351C>T (PKD1-AS1)
XR_933001.1:n.180-351C>T (PKD1-AS1)
XR_933002.1:n.89-351C>T (PKD1-AS1)
XR_933003.1:n.89-351C>T (PKD1-AS1)
NR_135175.1:n.180-351C>T (PKD1-AS1)
XM_005255370.3:c.8166G>A (PKD1)	XP_005255427.1:p.Gly2722=
XM_011522528.3:c.11265G>A (PKD1)	XP_011520830.1:p.Gly3755=
XM_011522529.2:c.11262G>A (PKD1)	XP_011520831.1:p.Gly3754=
XM_011522537.2:c.8289G>A (PKD1)	XP_011520839.1:p.Gly2763=
XM_024450298.1:c.11331G>A (PKD1)	XP_024306066.1:p.Gly3777=
XM_024450299.1:c.11259G>A (PKD1)	XP_024306067.1:p.Gly3753=
XM_024450300.1:c.11121G>A (PKD1)	XP_024306068.1:p.Gly3707=
XM_024450301.1:c.9207G>A (PKD1)	XP_024306069.1:p.Gly3069=
NM_000296.4:c.11208G>A (PKD1)	NP_000287.4:p.Gly3736=
NM_001009944.3:c.11211G>A (PKD1) MANE Select	NP_001009944.3:p.Gly3737=