Canonical Allele Identifier: CA394336295

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092543-G-T
• MyVariant Identifiers: chr16:g.2142544G>T (hg19) ; chr16:g.2092543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092543G>T , CM000678.2:g.2092543G>T	GRCh38
NC_000016.9:g.2142544G>T , CM000678.1:g.2142544G>T	GRCh37
NC_000016.8:g.2082545G>T	NCBI36
NG_008617.1:g.50678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11206C>A (PKD1) MANE Select	ENSP00000262304.4:p.His3736Asn
ENST00000262304.8:c.11206C>A (PKD1)	ENSP00000262304.4:p.His3736Asn
ENST00000423118.5:c.11203C>A (PKD1)	ENSP00000399501.1:p.His3735Asn
ENST00000485120.1:n.55C>A (PKD1)
ENST00000487932.5:c.5768C>A (PKD1)	ENSP00000457132.1:n.5768C>A
ENST00000562425.1:c.319C>A (PKD1)
ENST00000567355.1:n.369C>A (PKD1)
NM_000296.3:c.11203C>A (PKD1)	NP_000287.3:p.His3735Asn
NM_001009944.2:c.11206C>A (PKD1)	NP_001009944.2:p.His3736Asn
XM_005255370.2:c.8161C>A (PKD1)	XP_005255427.1:p.His2721Asn
XM_011522525.1:c.11284C>A (PKD1)	XP_011520827.1:p.His3762Asn
XM_011522526.1:c.11281C>A (PKD1)	XP_011520828.1:p.His3761Asn
XM_011522527.1:c.11266C>A (PKD1)	XP_011520829.1:p.His3756Asn
XM_011522528.1:c.11260C>A (PKD1)	XP_011520830.1:p.His3754Asn
XM_011522529.1:c.11257C>A (PKD1)	XP_011520831.1:p.His3753Asn
XM_011522530.1:c.11230C>A (PKD1)	XP_011520832.1:p.His3744Asn
XM_011522531.1:c.11212C>A (PKD1)	XP_011520833.1:p.His3738Asn
XM_011522532.1:c.11158C>A (PKD1)	XP_011520834.1:p.His3720Asn
XM_011522533.1:c.11077C>A (PKD1)	XP_011520835.1:p.His3693Asn
XM_011522534.1:c.11020C>A (PKD1)	XP_011520836.1:p.His3674Asn
XM_011522535.1:c.9106C>A (PKD1)	XP_011520837.1:p.His3036Asn
XM_011522537.1:c.8284C>A (PKD1)	XP_011520839.1:p.His2762Asn
XR_932867.1:n.11299C>A (PKD1)
XR_932868.1:n.11110-355C>A (PKD1)
XR_932869.1:n.11110-355C>A (PKD1)
XR_932870.1:n.11159C>A (PKD1)
XR_933000.1:n.90-346G>T (PKD1-AS1)
XR_933001.1:n.180-346G>T (PKD1-AS1)
XR_933002.1:n.89-346G>T (PKD1-AS1)
XR_933003.1:n.89-346G>T (PKD1-AS1)
NR_135175.1:n.180-346G>T (PKD1-AS1)
XM_005255370.3:c.8161C>A (PKD1)	XP_005255427.1:p.His2721Asn
XM_011522528.3:c.11260C>A (PKD1)	XP_011520830.1:p.His3754Asn
XM_011522529.2:c.11257C>A (PKD1)	XP_011520831.1:p.His3753Asn
XM_011522537.2:c.8284C>A (PKD1)	XP_011520839.1:p.His2762Asn
XM_024450298.1:c.11326C>A (PKD1)	XP_024306066.1:p.His3776Asn
XM_024450299.1:c.11254C>A (PKD1)	XP_024306067.1:p.His3752Asn
XM_024450300.1:c.11116C>A (PKD1)	XP_024306068.1:p.His3706Asn
XM_024450301.1:c.9202C>A (PKD1)	XP_024306069.1:p.His3068Asn
NM_000296.4:c.11203C>A (PKD1)	NP_000287.4:p.His3735Asn
NM_001009944.3:c.11206C>A (PKD1) MANE Select	NP_001009944.3:p.His3736Asn