Canonical Allele Identifier: CA394341502

Gene: PKD1 PKD1-AS1

Linked Data

• dbSNP Id: rs1250005132
• gnomAD v2: 16-2144132-T-C
• gnomAD v4: 16-2094131-T-C
• MyVariant Identifiers: chr16:g.2144132T>C (hg19) ; chr16:g.2094131T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10579A>G (PKD1) MANE Select	ENSP00000262304.4:p.Asn3527Asp
ENST00000262304.8:c.10579A>G (PKD1)	ENSP00000262304.4:p.Asn3527Asp
ENST00000423118.5:c.10576A>G (PKD1)	ENSP00000399501.1:p.Asn3526Asp
ENST00000472659.1:n.16A>G (PKD1)
ENST00000487932.5:c.5141A>G (PKD1)	ENSP00000457132.1:n.5141A>G
NM_000296.3:c.10576A>G (PKD1)	NP_000287.3:p.Asn3526Asp
NM_001009944.2:c.10579A>G (PKD1)	NP_001009944.2:p.Asn3527Asp
XM_005255370.2:c.7534A>G (PKD1)	XP_005255427.1:p.Asn2512Asp
XM_011522525.1:c.10657A>G (PKD1)	XP_011520827.1:p.Asn3553Asp
XM_011522526.1:c.10654A>G (PKD1)	XP_011520828.1:p.Asn3552Asp
XM_011522527.1:c.10639A>G (PKD1)	XP_011520829.1:p.Asn3547Asp
XM_011522528.1:c.10633A>G (PKD1)	XP_011520830.1:p.Asn3545Asp
XM_011522529.1:c.10630A>G (PKD1)	XP_011520831.1:p.Asn3544Asp
XM_011522530.1:c.10603A>G (PKD1)	XP_011520832.1:p.Asn3535Asp
XM_011522531.1:c.10585A>G (PKD1)	XP_011520833.1:p.Asn3529Asp
XM_011522532.1:c.10531A>G (PKD1)	XP_011520834.1:p.Asn3511Asp
XM_011522533.1:c.10450A>G (PKD1)	XP_011520835.1:p.Asn3484Asp
XM_011522534.1:c.10393A>G (PKD1)	XP_011520836.1:p.Asn3465Asp
XM_011522535.1:c.8479A>G (PKD1)	XP_011520837.1:p.Asn2827Asp
XM_011522537.1:c.7657A>G (PKD1)	XP_011520839.1:p.Asn2553Asp
XR_932867.1:n.10672A>G (PKD1)
XR_932868.1:n.10672A>G (PKD1)
XR_932869.1:n.10672A>G (PKD1)
XR_932870.1:n.10672A>G (PKD1)
XR_933000.1:n.214-547T>C (PKD1-AS1)
XR_933001.1:n.304-590T>C (PKD1-AS1)
XR_933002.1:n.213-547T>C (PKD1-AS1)
XR_933003.1:n.213-590T>C (PKD1-AS1)
NR_135175.1:n.304-590T>C (PKD1-AS1)
XM_005255370.3:c.7534A>G (PKD1)	XP_005255427.1:p.Asn2512Asp
XM_011522528.3:c.10633A>G (PKD1)	XP_011520830.1:p.Asn3545Asp
XM_011522529.2:c.10630A>G (PKD1)	XP_011520831.1:p.Asn3544Asp
XM_011522537.2:c.7657A>G (PKD1)	XP_011520839.1:p.Asn2553Asp
XM_024450298.1:c.10699A>G (PKD1)	XP_024306066.1:p.Asn3567Asp
XM_024450299.1:c.10627A>G (PKD1)	XP_024306067.1:p.Asn3543Asp
XM_024450300.1:c.10489A>G (PKD1)	XP_024306068.1:p.Asn3497Asp
XM_024450301.1:c.8575A>G (PKD1)	XP_024306069.1:p.Asn2859Asp
NM_000296.4:c.10576A>G (PKD1)	NP_000287.4:p.Asn3526Asp
NM_001009944.3:c.10579A>G (PKD1) MANE Select	NP_001009944.3:p.Asn3527Asp