Canonical Allele Identifier: CA394382759

Gene: PKD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3610G>T MANE Select	ENSP00000262304.4:p.Ala1204Ser
ENST00000262304.8:c.3610G>T	ENSP00000262304.4:p.Ala1204Ser
ENST00000415938.7:n.310+783G>T
ENST00000423118.5:c.3610G>T	ENSP00000399501.1:p.Ala1204Ser
ENST00000468674.5:n.430+783G>T
ENST00000469241.2:n.560G>T
ENST00000483024.1:c.233+259G>T
ENST00000483731.5:n.790+783G>T
ENST00000488185.2:c.473-3199G>T
ENST00000565639.6:n.773+783G>T
ENST00000568591.5:c.2226+783G>T	ENSP00000457162.1:n.2226+783G>T
ENST00000569983.5:n.421+783G>T
NM_000296.3:c.3610G>T	NP_000287.3:p.Ala1204Ser
NM_001009944.2:c.3610G>T	NP_001009944.2:p.Ala1204Ser
XM_005255370.2:c.565G>T	XP_005255427.1:p.Ala189Ser
XM_011522525.1:c.3688G>T	XP_011520827.1:p.Ala1230Ser
XM_011522526.1:c.3688G>T	XP_011520828.1:p.Ala1230Ser
XM_011522527.1:c.3688G>T	XP_011520829.1:p.Ala1230Ser
XM_011522528.1:c.3664G>T	XP_011520830.1:p.Ala1222Ser
XM_011522529.1:c.3664G>T	XP_011520831.1:p.Ala1222Ser
XM_011522530.1:c.3634G>T	XP_011520832.1:p.Ala1212Ser
XM_011522531.1:c.3616G>T	XP_011520833.1:p.Ala1206Ser
XM_011522532.1:c.3562G>T	XP_011520834.1:p.Ala1188Ser
XM_011522533.1:c.3481G>T	XP_011520835.1:p.Ala1161Ser
XM_011522534.1:c.3424G>T	XP_011520836.1:p.Ala1142Ser
XM_011522535.1:c.1510G>T	XP_011520837.1:p.Ala504Ser
XM_011522536.1:c.3688G>T	XP_011520838.1:p.Ala1230Ser
XM_011522537.1:c.688G>T	XP_011520839.1:p.Ala230Ser
XR_932867.1:n.3703G>T
XR_932868.1:n.3703G>T
XR_932869.1:n.3703G>T
XR_932870.1:n.3703G>T
XM_005255370.3:c.565G>T	XP_005255427.1:p.Ala189Ser
XM_011522528.3:c.3664G>T	XP_011520830.1:p.Ala1222Ser
XM_011522529.2:c.3664G>T	XP_011520831.1:p.Ala1222Ser
XM_011522537.2:c.688G>T	XP_011520839.1:p.Ala230Ser
XM_024450298.1:c.3730G>T	XP_024306066.1:p.Ala1244Ser
XM_024450299.1:c.3658G>T	XP_024306067.1:p.Ala1220Ser
XM_024450300.1:c.3520G>T	XP_024306068.1:p.Ala1174Ser
XM_024450301.1:c.1606G>T	XP_024306069.1:p.Ala536Ser
NM_000296.4:c.3610G>T	NP_000287.4:p.Ala1204Ser
NM_001009944.3:c.3610G>T MANE Select	NP_001009944.3:p.Ala1204Ser