Canonical Allele Identifier: CA394341523

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2094134-G-T
• MyVariant Identifiers: chr16:g.2144135G>T (hg19) ; chr16:g.2094134G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094134G>T , CM000678.2:g.2094134G>T	GRCh38
NC_000016.9:g.2144135G>T , CM000678.1:g.2144135G>T	GRCh37
NC_000016.8:g.2084136G>T	NCBI36
NG_008617.1:g.49087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10576C>A (PKD1) MANE Select	ENSP00000262304.4:p.Leu3526Met
ENST00000262304.8:c.10576C>A (PKD1)	ENSP00000262304.4:p.Leu3526Met
ENST00000423118.5:c.10573C>A (PKD1)	ENSP00000399501.1:p.Leu3525Met
ENST00000472659.1:n.13C>A (PKD1)
ENST00000487932.5:c.5138C>A (PKD1)	ENSP00000457132.1:n.5138C>A
NM_000296.3:c.10573C>A (PKD1)	NP_000287.3:p.Leu3525Met
NM_001009944.2:c.10576C>A (PKD1)	NP_001009944.2:p.Leu3526Met
XM_005255370.2:c.7531C>A (PKD1)	XP_005255427.1:p.Leu2511Met
XM_011522525.1:c.10654C>A (PKD1)	XP_011520827.1:p.Leu3552Met
XM_011522526.1:c.10651C>A (PKD1)	XP_011520828.1:p.Leu3551Met
XM_011522527.1:c.10636C>A (PKD1)	XP_011520829.1:p.Leu3546Met
XM_011522528.1:c.10630C>A (PKD1)	XP_011520830.1:p.Leu3544Met
XM_011522529.1:c.10627C>A (PKD1)	XP_011520831.1:p.Leu3543Met
XM_011522530.1:c.10600C>A (PKD1)	XP_011520832.1:p.Leu3534Met
XM_011522531.1:c.10582C>A (PKD1)	XP_011520833.1:p.Leu3528Met
XM_011522532.1:c.10528C>A (PKD1)	XP_011520834.1:p.Leu3510Met
XM_011522533.1:c.10447C>A (PKD1)	XP_011520835.1:p.Leu3483Met
XM_011522534.1:c.10390C>A (PKD1)	XP_011520836.1:p.Leu3464Met
XM_011522535.1:c.8476C>A (PKD1)	XP_011520837.1:p.Leu2826Met
XM_011522537.1:c.7654C>A (PKD1)	XP_011520839.1:p.Leu2552Met
XR_932867.1:n.10669C>A (PKD1)
XR_932868.1:n.10669C>A (PKD1)
XR_932869.1:n.10669C>A (PKD1)
XR_932870.1:n.10669C>A (PKD1)
XR_933000.1:n.214-544G>T (PKD1-AS1)
XR_933001.1:n.304-587G>T (PKD1-AS1)
XR_933002.1:n.213-544G>T (PKD1-AS1)
XR_933003.1:n.213-587G>T (PKD1-AS1)
NR_135175.1:n.304-587G>T (PKD1-AS1)
XM_005255370.3:c.7531C>A (PKD1)	XP_005255427.1:p.Leu2511Met
XM_011522528.3:c.10630C>A (PKD1)	XP_011520830.1:p.Leu3544Met
XM_011522529.2:c.10627C>A (PKD1)	XP_011520831.1:p.Leu3543Met
XM_011522537.2:c.7654C>A (PKD1)	XP_011520839.1:p.Leu2552Met
XM_024450298.1:c.10696C>A (PKD1)	XP_024306066.1:p.Leu3566Met
XM_024450299.1:c.10624C>A (PKD1)	XP_024306067.1:p.Leu3542Met
XM_024450300.1:c.10486C>A (PKD1)	XP_024306068.1:p.Leu3496Met
XM_024450301.1:c.8572C>A (PKD1)	XP_024306069.1:p.Leu2858Met
NM_000296.4:c.10573C>A (PKD1)	NP_000287.4:p.Leu3525Met
NM_001009944.3:c.10576C>A (PKD1) MANE Select	NP_001009944.3:p.Leu3526Met