Canonical Allele Identifier: CA394336505

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2142582A>T (hg19) ; chr16:g.2092581A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092581A>T , CM000678.2:g.2092581A>T	GRCh38
NC_000016.9:g.2142582A>T , CM000678.1:g.2142582A>T	GRCh37
NC_000016.8:g.2082583A>T	NCBI36
NG_008617.1:g.50640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11168T>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3723His
ENST00000262304.8:c.11168T>A (PKD1)	ENSP00000262304.4:p.Leu3723His
ENST00000423118.5:c.11165T>A (PKD1)	ENSP00000399501.1:p.Leu3722His
ENST00000485120.1:n.17T>A (PKD1)
ENST00000487932.5:c.5730T>A (PKD1)	ENSP00000457132.1:n.5730T>A
ENST00000562425.1:c.281T>A (PKD1)
ENST00000567355.1:n.331T>A (PKD1)
NM_000296.3:c.11165T>A (PKD1)	NP_000287.3:p.Leu3722His
NM_001009944.2:c.11168T>A (PKD1)	NP_001009944.2:p.Leu3723His
XM_005255370.2:c.8123T>A (PKD1)	XP_005255427.1:p.Leu2708His
XM_011522525.1:c.11246T>A (PKD1)	XP_011520827.1:p.Leu3749His
XM_011522526.1:c.11243T>A (PKD1)	XP_011520828.1:p.Leu3748His
XM_011522527.1:c.11228T>A (PKD1)	XP_011520829.1:p.Leu3743His
XM_011522528.1:c.11222T>A (PKD1)	XP_011520830.1:p.Leu3741His
XM_011522529.1:c.11219T>A (PKD1)	XP_011520831.1:p.Leu3740His
XM_011522530.1:c.11192T>A (PKD1)	XP_011520832.1:p.Leu3731His
XM_011522531.1:c.11174T>A (PKD1)	XP_011520833.1:p.Leu3725His
XM_011522532.1:c.11120T>A (PKD1)	XP_011520834.1:p.Leu3707His
XM_011522533.1:c.11039T>A (PKD1)	XP_011520835.1:p.Leu3680His
XM_011522534.1:c.10982T>A (PKD1)	XP_011520836.1:p.Leu3661His
XM_011522535.1:c.9068T>A (PKD1)	XP_011520837.1:p.Leu3023His
XM_011522537.1:c.8246T>A (PKD1)	XP_011520839.1:p.Leu2749His
XR_932867.1:n.11261T>A (PKD1)
XR_932868.1:n.11110-393T>A (PKD1)
XR_932869.1:n.11110-393T>A (PKD1)
XR_932870.1:n.11121T>A (PKD1)
XR_933000.1:n.90-308A>T (PKD1-AS1)
XR_933001.1:n.180-308A>T (PKD1-AS1)
XR_933002.1:n.89-308A>T (PKD1-AS1)
XR_933003.1:n.89-308A>T (PKD1-AS1)
NR_135175.1:n.180-308A>T (PKD1-AS1)
XM_005255370.3:c.8123T>A (PKD1)	XP_005255427.1:p.Leu2708His
XM_011522528.3:c.11222T>A (PKD1)	XP_011520830.1:p.Leu3741His
XM_011522529.2:c.11219T>A (PKD1)	XP_011520831.1:p.Leu3740His
XM_011522537.2:c.8246T>A (PKD1)	XP_011520839.1:p.Leu2749His
XM_024450298.1:c.11288T>A (PKD1)	XP_024306066.1:p.Leu3763His
XM_024450299.1:c.11216T>A (PKD1)	XP_024306067.1:p.Leu3739His
XM_024450300.1:c.11078T>A (PKD1)	XP_024306068.1:p.Leu3693His
XM_024450301.1:c.9164T>A (PKD1)	XP_024306069.1:p.Leu3055His
NM_000296.4:c.11165T>A (PKD1)	NP_000287.4:p.Leu3722His
NM_001009944.3:c.11168T>A (PKD1) MANE Select	NP_001009944.3:p.Leu3723His