Canonical Allele Identifier: CA394341497

Gene: PKD1 PKD1-AS1

Linked Data

• MyVariant Identifiers: chr16:g.2144131T>G (hg19) ; chr16:g.2094130T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094130T>G , CM000678.2:g.2094130T>G	GRCh38
NC_000016.9:g.2144131T>G , CM000678.1:g.2144131T>G	GRCh37
NC_000016.8:g.2084132T>G	NCBI36
NG_008617.1:g.49091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10580A>C (PKD1) MANE Select	ENSP00000262304.4:p.Asn3527Thr
ENST00000262304.8:c.10580A>C (PKD1)	ENSP00000262304.4:p.Asn3527Thr
ENST00000423118.5:c.10577A>C (PKD1)	ENSP00000399501.1:p.Asn3526Thr
ENST00000472659.1:n.17A>C (PKD1)
ENST00000487932.5:c.5142A>C (PKD1)	ENSP00000457132.1:n.5142A>C
NM_000296.3:c.10577A>C (PKD1)	NP_000287.3:p.Asn3526Thr
NM_001009944.2:c.10580A>C (PKD1)	NP_001009944.2:p.Asn3527Thr
XM_005255370.2:c.7535A>C (PKD1)	XP_005255427.1:p.Asn2512Thr
XM_011522525.1:c.10658A>C (PKD1)	XP_011520827.1:p.Asn3553Thr
XM_011522526.1:c.10655A>C (PKD1)	XP_011520828.1:p.Asn3552Thr
XM_011522527.1:c.10640A>C (PKD1)	XP_011520829.1:p.Asn3547Thr
XM_011522528.1:c.10634A>C (PKD1)	XP_011520830.1:p.Asn3545Thr
XM_011522529.1:c.10631A>C (PKD1)	XP_011520831.1:p.Asn3544Thr
XM_011522530.1:c.10604A>C (PKD1)	XP_011520832.1:p.Asn3535Thr
XM_011522531.1:c.10586A>C (PKD1)	XP_011520833.1:p.Asn3529Thr
XM_011522532.1:c.10532A>C (PKD1)	XP_011520834.1:p.Asn3511Thr
XM_011522533.1:c.10451A>C (PKD1)	XP_011520835.1:p.Asn3484Thr
XM_011522534.1:c.10394A>C (PKD1)	XP_011520836.1:p.Asn3465Thr
XM_011522535.1:c.8480A>C (PKD1)	XP_011520837.1:p.Asn2827Thr
XM_011522537.1:c.7658A>C (PKD1)	XP_011520839.1:p.Asn2553Thr
XR_932867.1:n.10673A>C (PKD1)
XR_932868.1:n.10673A>C (PKD1)
XR_932869.1:n.10673A>C (PKD1)
XR_932870.1:n.10673A>C (PKD1)
XR_933000.1:n.214-548T>G (PKD1-AS1)
XR_933001.1:n.304-591T>G (PKD1-AS1)
XR_933002.1:n.213-548T>G (PKD1-AS1)
XR_933003.1:n.213-591T>G (PKD1-AS1)
NR_135175.1:n.304-591T>G (PKD1-AS1)
XM_005255370.3:c.7535A>C (PKD1)	XP_005255427.1:p.Asn2512Thr
XM_011522528.3:c.10634A>C (PKD1)	XP_011520830.1:p.Asn3545Thr
XM_011522529.2:c.10631A>C (PKD1)	XP_011520831.1:p.Asn3544Thr
XM_011522537.2:c.7658A>C (PKD1)	XP_011520839.1:p.Asn2553Thr
XM_024450298.1:c.10700A>C (PKD1)	XP_024306066.1:p.Asn3567Thr
XM_024450299.1:c.10628A>C (PKD1)	XP_024306067.1:p.Asn3543Thr
XM_024450300.1:c.10490A>C (PKD1)	XP_024306068.1:p.Asn3497Thr
XM_024450301.1:c.8576A>C (PKD1)	XP_024306069.1:p.Asn2859Thr
NM_000296.4:c.10577A>C (PKD1)	NP_000287.4:p.Asn3526Thr
NM_001009944.3:c.10580A>C (PKD1) MANE Select	NP_001009944.3:p.Asn3527Thr