Canonical Allele Identifier: CA394382761

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161558C>T (hg19) ; chr16:g.2111557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111557C>T , CM000678.2:g.2111557C>T	GRCh38
NC_000016.9:g.2161558C>T , CM000678.1:g.2161558C>T	GRCh37
NC_000016.8:g.2101559C>T	NCBI36
NG_008617.1:g.29342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3610G>A MANE Select	ENSP00000262304.4:p.Ala1204Thr
ENST00000262304.8:c.3610G>A	ENSP00000262304.4:p.Ala1204Thr
ENST00000415938.7:n.310+783G>A
ENST00000423118.5:c.3610G>A	ENSP00000399501.1:p.Ala1204Thr
ENST00000468674.5:n.430+783G>A
ENST00000469241.2:n.560G>A
ENST00000483024.1:c.233+259G>A
ENST00000483731.5:n.790+783G>A
ENST00000488185.2:c.473-3199G>A
ENST00000565639.6:n.773+783G>A
ENST00000568591.5:c.2226+783G>A	ENSP00000457162.1:n.2226+783G>A
ENST00000569983.5:n.421+783G>A
NM_000296.3:c.3610G>A	NP_000287.3:p.Ala1204Thr
NM_001009944.2:c.3610G>A	NP_001009944.2:p.Ala1204Thr
XM_005255370.2:c.565G>A	XP_005255427.1:p.Ala189Thr
XM_011522525.1:c.3688G>A	XP_011520827.1:p.Ala1230Thr
XM_011522526.1:c.3688G>A	XP_011520828.1:p.Ala1230Thr
XM_011522527.1:c.3688G>A	XP_011520829.1:p.Ala1230Thr
XM_011522528.1:c.3664G>A	XP_011520830.1:p.Ala1222Thr
XM_011522529.1:c.3664G>A	XP_011520831.1:p.Ala1222Thr
XM_011522530.1:c.3634G>A	XP_011520832.1:p.Ala1212Thr
XM_011522531.1:c.3616G>A	XP_011520833.1:p.Ala1206Thr
XM_011522532.1:c.3562G>A	XP_011520834.1:p.Ala1188Thr
XM_011522533.1:c.3481G>A	XP_011520835.1:p.Ala1161Thr
XM_011522534.1:c.3424G>A	XP_011520836.1:p.Ala1142Thr
XM_011522535.1:c.1510G>A	XP_011520837.1:p.Ala504Thr
XM_011522536.1:c.3688G>A	XP_011520838.1:p.Ala1230Thr
XM_011522537.1:c.688G>A	XP_011520839.1:p.Ala230Thr
XR_932867.1:n.3703G>A
XR_932868.1:n.3703G>A
XR_932869.1:n.3703G>A
XR_932870.1:n.3703G>A
XM_005255370.3:c.565G>A	XP_005255427.1:p.Ala189Thr
XM_011522528.3:c.3664G>A	XP_011520830.1:p.Ala1222Thr
XM_011522529.2:c.3664G>A	XP_011520831.1:p.Ala1222Thr
XM_011522537.2:c.688G>A	XP_011520839.1:p.Ala230Thr
XM_024450298.1:c.3730G>A	XP_024306066.1:p.Ala1244Thr
XM_024450299.1:c.3658G>A	XP_024306067.1:p.Ala1220Thr
XM_024450300.1:c.3520G>A	XP_024306068.1:p.Ala1174Thr
XM_024450301.1:c.1606G>A	XP_024306069.1:p.Ala536Thr
NM_000296.4:c.3610G>A	NP_000287.4:p.Ala1204Thr
NM_001009944.3:c.3610G>A MANE Select	NP_001009944.3:p.Ala1204Thr