Canonical Allele Identifier: CA394336180

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092504-G-T
• COSMIC: COSM968463
• MyVariant Identifiers: chr16:g.2142505G>T (hg19) ; chr16:g.2092504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092504G>T , CM000678.2:g.2092504G>T	GRCh38
NC_000016.9:g.2142505G>T , CM000678.1:g.2142505G>T	GRCh37
NC_000016.8:g.2082506G>T	NCBI36
NG_008617.1:g.50717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11245C>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3749Met
ENST00000262304.8:c.11245C>A (PKD1)	ENSP00000262304.4:p.Leu3749Met
ENST00000423118.5:c.11242C>A (PKD1)	ENSP00000399501.1:p.Leu3748Met
ENST00000485120.1:n.94C>A (PKD1)
ENST00000487932.5:c.5807C>A (PKD1)	ENSP00000457132.1:n.5807C>A
ENST00000562425.1:c.358C>A (PKD1)
ENST00000567355.1:n.408C>A (PKD1)
NM_000296.3:c.11242C>A (PKD1)	NP_000287.3:p.Leu3748Met
NM_001009944.2:c.11245C>A (PKD1)	NP_001009944.2:p.Leu3749Met
XM_005255370.2:c.8200C>A (PKD1)	XP_005255427.1:p.Leu2734Met
XM_011522525.1:c.11323C>A (PKD1)	XP_011520827.1:p.Leu3775Met
XM_011522526.1:c.11320C>A (PKD1)	XP_011520828.1:p.Leu3774Met
XM_011522527.1:c.11305C>A (PKD1)	XP_011520829.1:p.Leu3769Met
XM_011522528.1:c.11299C>A (PKD1)	XP_011520830.1:p.Leu3767Met
XM_011522529.1:c.11296C>A (PKD1)	XP_011520831.1:p.Leu3766Met
XM_011522530.1:c.11269C>A (PKD1)	XP_011520832.1:p.Leu3757Met
XM_011522531.1:c.11251C>A (PKD1)	XP_011520833.1:p.Leu3751Met
XM_011522532.1:c.11197C>A (PKD1)	XP_011520834.1:p.Leu3733Met
XM_011522533.1:c.11116C>A (PKD1)	XP_011520835.1:p.Leu3706Met
XM_011522534.1:c.11059C>A (PKD1)	XP_011520836.1:p.Leu3687Met
XM_011522535.1:c.9145C>A (PKD1)	XP_011520837.1:p.Leu3049Met
XM_011522537.1:c.8323C>A (PKD1)	XP_011520839.1:p.Leu2775Met
XR_932867.1:n.11338C>A (PKD1)
XR_932868.1:n.11110-316C>A (PKD1)
XR_932869.1:n.11110-316C>A (PKD1)
XR_932870.1:n.11198C>A (PKD1)
XR_933000.1:n.90-385G>T (PKD1-AS1)
XR_933001.1:n.180-385G>T (PKD1-AS1)
XR_933002.1:n.89-385G>T (PKD1-AS1)
XR_933003.1:n.89-385G>T (PKD1-AS1)
NR_135175.1:n.180-385G>T (PKD1-AS1)
XM_005255370.3:c.8200C>A (PKD1)	XP_005255427.1:p.Leu2734Met
XM_011522528.3:c.11299C>A (PKD1)	XP_011520830.1:p.Leu3767Met
XM_011522529.2:c.11296C>A (PKD1)	XP_011520831.1:p.Leu3766Met
XM_011522537.2:c.8323C>A (PKD1)	XP_011520839.1:p.Leu2775Met
XM_024450298.1:c.11365C>A (PKD1)	XP_024306066.1:p.Leu3789Met
XM_024450299.1:c.11293C>A (PKD1)	XP_024306067.1:p.Leu3765Met
XM_024450300.1:c.11155C>A (PKD1)	XP_024306068.1:p.Leu3719Met
XM_024450301.1:c.9241C>A (PKD1)	XP_024306069.1:p.Leu3081Met
NM_000296.4:c.11242C>A (PKD1)	NP_000287.4:p.Leu3748Met
NM_001009944.3:c.11245C>A (PKD1) MANE Select	NP_001009944.3:p.Leu3749Met