Canonical Allele Identifier: CA394336163

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092498-G-T
• MyVariant Identifiers: chr16:g.2142499G>T (hg19) ; chr16:g.2092498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092498G>T , CM000678.2:g.2092498G>T	GRCh38
NC_000016.9:g.2142499G>T , CM000678.1:g.2142499G>T	GRCh37
NC_000016.8:g.2082500G>T	NCBI36
NG_008617.1:g.50723C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11251C>A (PKD1) MANE Select	ENSP00000262304.4:p.Gln3751Lys
ENST00000262304.8:c.11251C>A (PKD1)	ENSP00000262304.4:p.Gln3751Lys
ENST00000423118.5:c.11248C>A (PKD1)	ENSP00000399501.1:p.Gln3750Lys
ENST00000485120.1:n.100C>A (PKD1)
ENST00000487932.5:c.5813C>A (PKD1)	ENSP00000457132.1:n.5813C>A
ENST00000562425.1:c.364C>A (PKD1)
ENST00000567355.1:n.414C>A (PKD1)
NM_000296.3:c.11248C>A (PKD1)	NP_000287.3:p.Gln3750Lys
NM_001009944.2:c.11251C>A (PKD1)	NP_001009944.2:p.Gln3751Lys
XM_005255370.2:c.8206C>A (PKD1)	XP_005255427.1:p.Gln2736Lys
XM_011522525.1:c.11329C>A (PKD1)	XP_011520827.1:p.Gln3777Lys
XM_011522526.1:c.11326C>A (PKD1)	XP_011520828.1:p.Gln3776Lys
XM_011522527.1:c.11311C>A (PKD1)	XP_011520829.1:p.Gln3771Lys
XM_011522528.1:c.11305C>A (PKD1)	XP_011520830.1:p.Gln3769Lys
XM_011522529.1:c.11302C>A (PKD1)	XP_011520831.1:p.Gln3768Lys
XM_011522530.1:c.11275C>A (PKD1)	XP_011520832.1:p.Gln3759Lys
XM_011522531.1:c.11257C>A (PKD1)	XP_011520833.1:p.Gln3753Lys
XM_011522532.1:c.11203C>A (PKD1)	XP_011520834.1:p.Gln3735Lys
XM_011522533.1:c.11122C>A (PKD1)	XP_011520835.1:p.Gln3708Lys
XM_011522534.1:c.11065C>A (PKD1)	XP_011520836.1:p.Gln3689Lys
XM_011522535.1:c.9151C>A (PKD1)	XP_011520837.1:p.Gln3051Lys
XM_011522537.1:c.8329C>A (PKD1)	XP_011520839.1:p.Gln2777Lys
XR_932867.1:n.11344C>A (PKD1)
XR_932868.1:n.11110-310C>A (PKD1)
XR_932869.1:n.11110-310C>A (PKD1)
XR_932870.1:n.11204C>A (PKD1)
XR_933000.1:n.90-391G>T (PKD1-AS1)
XR_933001.1:n.180-391G>T (PKD1-AS1)
XR_933002.1:n.89-391G>T (PKD1-AS1)
XR_933003.1:n.89-391G>T (PKD1-AS1)
NR_135175.1:n.180-391G>T (PKD1-AS1)
XM_005255370.3:c.8206C>A (PKD1)	XP_005255427.1:p.Gln2736Lys
XM_011522528.3:c.11305C>A (PKD1)	XP_011520830.1:p.Gln3769Lys
XM_011522529.2:c.11302C>A (PKD1)	XP_011520831.1:p.Gln3768Lys
XM_011522537.2:c.8329C>A (PKD1)	XP_011520839.1:p.Gln2777Lys
XM_024450298.1:c.11371C>A (PKD1)	XP_024306066.1:p.Gln3791Lys
XM_024450299.1:c.11299C>A (PKD1)	XP_024306067.1:p.Gln3767Lys
XM_024450300.1:c.11161C>A (PKD1)	XP_024306068.1:p.Gln3721Lys
XM_024450301.1:c.9247C>A (PKD1)	XP_024306069.1:p.Gln3083Lys
NM_000296.4:c.11248C>A (PKD1)	NP_000287.4:p.Gln3750Lys
NM_001009944.3:c.11251C>A (PKD1) MANE Select	NP_001009944.3:p.Gln3751Lys