Canonical Allele Identifier: CA394341501

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2144132T>A (hg19) ; chr16:g.2094131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094131T>A , CM000678.2:g.2094131T>A	GRCh38
NC_000016.9:g.2144132T>A , CM000678.1:g.2144132T>A	GRCh37
NC_000016.8:g.2084133T>A	NCBI36
NG_008617.1:g.49090A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10579A>T (PKD1) MANE Select	ENSP00000262304.4:p.Asn3527Tyr
ENST00000262304.8:c.10579A>T (PKD1)	ENSP00000262304.4:p.Asn3527Tyr
ENST00000423118.5:c.10576A>T (PKD1)	ENSP00000399501.1:p.Asn3526Tyr
ENST00000472659.1:n.16A>T (PKD1)
ENST00000487932.5:c.5141A>T (PKD1)	ENSP00000457132.1:n.5141A>T
NM_000296.3:c.10576A>T (PKD1)	NP_000287.3:p.Asn3526Tyr
NM_001009944.2:c.10579A>T (PKD1)	NP_001009944.2:p.Asn3527Tyr
XM_005255370.2:c.7534A>T (PKD1)	XP_005255427.1:p.Asn2512Tyr
XM_011522525.1:c.10657A>T (PKD1)	XP_011520827.1:p.Asn3553Tyr
XM_011522526.1:c.10654A>T (PKD1)	XP_011520828.1:p.Asn3552Tyr
XM_011522527.1:c.10639A>T (PKD1)	XP_011520829.1:p.Asn3547Tyr
XM_011522528.1:c.10633A>T (PKD1)	XP_011520830.1:p.Asn3545Tyr
XM_011522529.1:c.10630A>T (PKD1)	XP_011520831.1:p.Asn3544Tyr
XM_011522530.1:c.10603A>T (PKD1)	XP_011520832.1:p.Asn3535Tyr
XM_011522531.1:c.10585A>T (PKD1)	XP_011520833.1:p.Asn3529Tyr
XM_011522532.1:c.10531A>T (PKD1)	XP_011520834.1:p.Asn3511Tyr
XM_011522533.1:c.10450A>T (PKD1)	XP_011520835.1:p.Asn3484Tyr
XM_011522534.1:c.10393A>T (PKD1)	XP_011520836.1:p.Asn3465Tyr
XM_011522535.1:c.8479A>T (PKD1)	XP_011520837.1:p.Asn2827Tyr
XM_011522537.1:c.7657A>T (PKD1)	XP_011520839.1:p.Asn2553Tyr
XR_932867.1:n.10672A>T (PKD1)
XR_932868.1:n.10672A>T (PKD1)
XR_932869.1:n.10672A>T (PKD1)
XR_932870.1:n.10672A>T (PKD1)
XR_933000.1:n.214-547T>A (PKD1-AS1)
XR_933001.1:n.304-590T>A (PKD1-AS1)
XR_933002.1:n.213-547T>A (PKD1-AS1)
XR_933003.1:n.213-590T>A (PKD1-AS1)
NR_135175.1:n.304-590T>A (PKD1-AS1)
XM_005255370.3:c.7534A>T (PKD1)	XP_005255427.1:p.Asn2512Tyr
XM_011522528.3:c.10633A>T (PKD1)	XP_011520830.1:p.Asn3545Tyr
XM_011522529.2:c.10630A>T (PKD1)	XP_011520831.1:p.Asn3544Tyr
XM_011522537.2:c.7657A>T (PKD1)	XP_011520839.1:p.Asn2553Tyr
XM_024450298.1:c.10699A>T (PKD1)	XP_024306066.1:p.Asn3567Tyr
XM_024450299.1:c.10627A>T (PKD1)	XP_024306067.1:p.Asn3543Tyr
XM_024450300.1:c.10489A>T (PKD1)	XP_024306068.1:p.Asn3497Tyr
XM_024450301.1:c.8575A>T (PKD1)	XP_024306069.1:p.Asn2859Tyr
NM_000296.4:c.10576A>T (PKD1)	NP_000287.4:p.Asn3526Tyr
NM_001009944.3:c.10579A>T (PKD1) MANE Select	NP_001009944.3:p.Asn3527Tyr