Canonical Allele Identifier: CA394370183

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156558A>T (hg19) ; chr16:g.2106557A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106557A>T , CM000678.2:g.2106557A>T	GRCh38
NC_000016.9:g.2156558A>T , CM000678.1:g.2156558A>T	GRCh37
NC_000016.8:g.2096559A>T	NCBI36
NG_008617.1:g.34342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7330T>A MANE Select	ENSP00000262304.4:p.Tyr2444Asn
ENST00000262304.8:c.7330T>A	ENSP00000262304.4:p.Tyr2444Asn
ENST00000415938.7:n.575T>A
ENST00000423118.5:c.7330T>A	ENSP00000399501.1:p.Tyr2444Asn
ENST00000483558.5:n.389T>A
ENST00000483731.5:n.1055T>A
ENST00000486339.6:n.1076T>A
ENST00000487932.5:c.2017T>A	ENSP00000457132.1:p.Tyr673Asn
ENST00000496574.6:n.1333T>A
ENST00000565639.6:n.1038T>A
ENST00000568591.5:c.2491T>A	ENSP00000457162.1:n.2491T>A
ENST00000569983.5:n.686T>A
NM_000296.3:c.7330T>A	NP_000287.3:p.Tyr2444Asn
NM_001009944.2:c.7330T>A	NP_001009944.2:p.Tyr2444Asn
XM_005255370.2:c.4285T>A	XP_005255427.1:p.Tyr1429Asn
XM_011522525.1:c.7408T>A	XP_011520827.1:p.Tyr2470Asn
XM_011522526.1:c.7408T>A	XP_011520828.1:p.Tyr2470Asn
XM_011522527.1:c.7408T>A	XP_011520829.1:p.Tyr2470Asn
XM_011522528.1:c.7384T>A	XP_011520830.1:p.Tyr2462Asn
XM_011522529.1:c.7384T>A	XP_011520831.1:p.Tyr2462Asn
XM_011522530.1:c.7354T>A	XP_011520832.1:p.Tyr2452Asn
XM_011522531.1:c.7336T>A	XP_011520833.1:p.Tyr2446Asn
XM_011522532.1:c.7282T>A	XP_011520834.1:p.Tyr2428Asn
XM_011522533.1:c.7201T>A	XP_011520835.1:p.Tyr2401Asn
XM_011522534.1:c.7144T>A	XP_011520836.1:p.Tyr2382Asn
XM_011522535.1:c.5230T>A	XP_011520837.1:p.Tyr1744Asn
XM_011522536.1:c.7408T>A	XP_011520838.1:p.Tyr2470Asn
XM_011522537.1:c.4408T>A	XP_011520839.1:p.Tyr1470Asn
XR_932867.1:n.7423T>A
XR_932868.1:n.7423T>A
XR_932869.1:n.7423T>A
XR_932870.1:n.7423T>A
XM_005255370.3:c.4285T>A	XP_005255427.1:p.Tyr1429Asn
XM_011522528.3:c.7384T>A	XP_011520830.1:p.Tyr2462Asn
XM_011522529.2:c.7384T>A	XP_011520831.1:p.Tyr2462Asn
XM_011522537.2:c.4408T>A	XP_011520839.1:p.Tyr1470Asn
XM_024450298.1:c.7450T>A	XP_024306066.1:p.Tyr2484Asn
XM_024450299.1:c.7378T>A	XP_024306067.1:p.Tyr2460Asn
XM_024450300.1:c.7240T>A	XP_024306068.1:p.Tyr2414Asn
XM_024450301.1:c.5326T>A	XP_024306069.1:p.Tyr1776Asn
NM_000296.4:c.7330T>A	NP_000287.4:p.Tyr2444Asn
NM_001009944.3:c.7330T>A MANE Select	NP_001009944.3:p.Tyr2444Asn