Canonical Allele Identifier: CA492962415

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092487-C-T
• MyVariant Identifiers: chr16:g.2142488C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092487C>T , CM000678.2:g.2092487C>T	GRCh38
NC_000016.9:g.2142488C>T , CM000678.1:g.2142488C>T	GRCh37
NC_000016.8:g.2082489C>T	NCBI36
NG_008617.1:g.50734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11262G>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3754=
ENST00000262304.8:c.11262G>A (PKD1)	ENSP00000262304.4:p.Leu3754=
ENST00000423118.5:c.11259G>A (PKD1)	ENSP00000399501.1:p.Leu3753=
ENST00000485120.1:n.111G>A (PKD1)
ENST00000487932.5:c.5824G>A (PKD1)	ENSP00000457132.1:n.5824G>A
ENST00000562425.1:c.375G>A (PKD1)
ENST00000567355.1:n.425G>A (PKD1)
NM_000296.3:c.11259G>A (PKD1)	NP_000287.3:p.Leu3753=
NM_001009944.2:c.11262G>A (PKD1)	NP_001009944.2:p.Leu3754=
XM_005255370.2:c.8217G>A (PKD1)	XP_005255427.1:p.Leu2739=
XM_011522525.1:c.11340G>A (PKD1)	XP_011520827.1:p.Leu3780=
XM_011522526.1:c.11337G>A (PKD1)	XP_011520828.1:p.Leu3779=
XM_011522527.1:c.11322G>A (PKD1)	XP_011520829.1:p.Leu3774=
XM_011522528.1:c.11316G>A (PKD1)	XP_011520830.1:p.Leu3772=
XM_011522529.1:c.11313G>A (PKD1)	XP_011520831.1:p.Leu3771=
XM_011522530.1:c.11286G>A (PKD1)	XP_011520832.1:p.Leu3762=
XM_011522531.1:c.11268G>A (PKD1)	XP_011520833.1:p.Leu3756=
XM_011522532.1:c.11214G>A (PKD1)	XP_011520834.1:p.Leu3738=
XM_011522533.1:c.11133G>A (PKD1)	XP_011520835.1:p.Leu3711=
XM_011522534.1:c.11076G>A (PKD1)	XP_011520836.1:p.Leu3692=
XM_011522535.1:c.9162G>A (PKD1)	XP_011520837.1:p.Leu3054=
XM_011522537.1:c.8340G>A (PKD1)	XP_011520839.1:p.Leu2780=
XR_932867.1:n.11355G>A (PKD1)
XR_932868.1:n.11110-299G>A (PKD1)
XR_932869.1:n.11110-299G>A (PKD1)
XR_932870.1:n.11215G>A (PKD1)
XR_933000.1:n.90-402C>T (PKD1-AS1)
XR_933001.1:n.180-402C>T (PKD1-AS1)
XR_933002.1:n.89-402C>T (PKD1-AS1)
XR_933003.1:n.89-402C>T (PKD1-AS1)
NR_135175.1:n.180-402C>T (PKD1-AS1)
XM_005255370.3:c.8217G>A (PKD1)	XP_005255427.1:p.Leu2739=
XM_011522528.3:c.11316G>A (PKD1)	XP_011520830.1:p.Leu3772=
XM_011522529.2:c.11313G>A (PKD1)	XP_011520831.1:p.Leu3771=
XM_011522537.2:c.8340G>A (PKD1)	XP_011520839.1:p.Leu2780=
XM_024450298.1:c.11382G>A (PKD1)	XP_024306066.1:p.Leu3794=
XM_024450299.1:c.11310G>A (PKD1)	XP_024306067.1:p.Leu3770=
XM_024450300.1:c.11172G>A (PKD1)	XP_024306068.1:p.Leu3724=
XM_024450301.1:c.9258G>A (PKD1)	XP_024306069.1:p.Leu3086=
NM_000296.4:c.11259G>A (PKD1)	NP_000287.4:p.Leu3753=
NM_001009944.3:c.11262G>A (PKD1) MANE Select	NP_001009944.3:p.Leu3754=