Canonical Allele Identifier: CA394341392

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094116-G-T
• MyVariant Identifiers: chr16:g.2144117G>T (hg19) ; chr16:g.2094116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094116G>T , CM000678.2:g.2094116G>T	GRCh38
NC_000016.9:g.2144117G>T , CM000678.1:g.2144117G>T	GRCh37
NC_000016.8:g.2084118G>T	NCBI36
NG_008617.1:g.49105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10594C>A (PKD1) MANE Select	ENSP00000262304.4:p.Gln3532Lys
ENST00000262304.8:c.10594C>A (PKD1)	ENSP00000262304.4:p.Gln3532Lys
ENST00000423118.5:c.10591C>A (PKD1)	ENSP00000399501.1:p.Gln3531Lys
ENST00000472659.1:n.31C>A (PKD1)
ENST00000487932.5:c.5156C>A (PKD1)	ENSP00000457132.1:n.5156C>A
NM_000296.3:c.10591C>A (PKD1)	NP_000287.3:p.Gln3531Lys
NM_001009944.2:c.10594C>A (PKD1)	NP_001009944.2:p.Gln3532Lys
XM_005255370.2:c.7549C>A (PKD1)	XP_005255427.1:p.Gln2517Lys
XM_011522525.1:c.10672C>A (PKD1)	XP_011520827.1:p.Gln3558Lys
XM_011522526.1:c.10669C>A (PKD1)	XP_011520828.1:p.Gln3557Lys
XM_011522527.1:c.10654C>A (PKD1)	XP_011520829.1:p.Gln3552Lys
XM_011522528.1:c.10648C>A (PKD1)	XP_011520830.1:p.Gln3550Lys
XM_011522529.1:c.10645C>A (PKD1)	XP_011520831.1:p.Gln3549Lys
XM_011522530.1:c.10618C>A (PKD1)	XP_011520832.1:p.Gln3540Lys
XM_011522531.1:c.10600C>A (PKD1)	XP_011520833.1:p.Gln3534Lys
XM_011522532.1:c.10546C>A (PKD1)	XP_011520834.1:p.Gln3516Lys
XM_011522533.1:c.10465C>A (PKD1)	XP_011520835.1:p.Gln3489Lys
XM_011522534.1:c.10408C>A (PKD1)	XP_011520836.1:p.Gln3470Lys
XM_011522535.1:c.8494C>A (PKD1)	XP_011520837.1:p.Gln2832Lys
XM_011522537.1:c.7672C>A (PKD1)	XP_011520839.1:p.Gln2558Lys
XR_932867.1:n.10687C>A (PKD1)
XR_932868.1:n.10687C>A (PKD1)
XR_932869.1:n.10687C>A (PKD1)
XR_932870.1:n.10687C>A (PKD1)
XR_933000.1:n.214-562G>T (PKD1-AS1)
XR_933001.1:n.304-605G>T (PKD1-AS1)
XR_933002.1:n.213-562G>T (PKD1-AS1)
XR_933003.1:n.213-605G>T (PKD1-AS1)
NR_135175.1:n.304-605G>T (PKD1-AS1)
XM_005255370.3:c.7549C>A (PKD1)	XP_005255427.1:p.Gln2517Lys
XM_011522528.3:c.10648C>A (PKD1)	XP_011520830.1:p.Gln3550Lys
XM_011522529.2:c.10645C>A (PKD1)	XP_011520831.1:p.Gln3549Lys
XM_011522537.2:c.7672C>A (PKD1)	XP_011520839.1:p.Gln2558Lys
XM_024450298.1:c.10714C>A (PKD1)	XP_024306066.1:p.Gln3572Lys
XM_024450299.1:c.10642C>A (PKD1)	XP_024306067.1:p.Gln3548Lys
XM_024450300.1:c.10504C>A (PKD1)	XP_024306068.1:p.Gln3502Lys
XM_024450301.1:c.8590C>A (PKD1)	XP_024306069.1:p.Gln2864Lys
NM_000296.4:c.10591C>A (PKD1)	NP_000287.4:p.Gln3531Lys
NM_001009944.3:c.10594C>A (PKD1) MANE Select	NP_001009944.3:p.Gln3532Lys