Canonical Allele Identifier: CA7832710

Gene: PKD1

Linked Data

• dbSNP Id: rs773471530
• ExAC: 16:2161566 G / A
• gnomAD v2: 16-2161566-G-A
• gnomAD v3: 16-2111565-G-A
• gnomAD v4: 16-2111565-G-A
• MyVariant Identifiers: chr16:g.2161566G>A (hg19) ; chr16:g.2111565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111565G>A , CM000678.2:g.2111565G>A	GRCh38
NC_000016.9:g.2161566G>A , CM000678.1:g.2161566G>A	GRCh37
NC_000016.8:g.2101567G>A	NCBI36
NG_008617.1:g.29334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3602C>T MANE Select	ENSP00000262304.4:p.Ala1201Val
ENST00000262304.8:c.3602C>T	ENSP00000262304.4:p.Ala1201Val
ENST00000415938.7:n.310+775C>T
ENST00000423118.5:c.3602C>T	ENSP00000399501.1:p.Ala1201Val
ENST00000468674.5:n.430+775C>T
ENST00000469241.2:n.552C>T
ENST00000483024.1:c.233+251C>T
ENST00000483731.5:n.790+775C>T
ENST00000488185.2:c.473-3207C>T
ENST00000565639.6:n.773+775C>T
ENST00000568591.5:c.2226+775C>T	ENSP00000457162.1:n.2226+775C>T
ENST00000569983.5:n.421+775C>T
NM_000296.3:c.3602C>T	NP_000287.3:p.Ala1201Val
NM_001009944.2:c.3602C>T	NP_001009944.2:p.Ala1201Val
XM_005255370.2:c.557C>T	XP_005255427.1:p.Ala186Val
XM_011522525.1:c.3680C>T	XP_011520827.1:p.Ala1227Val
XM_011522526.1:c.3680C>T	XP_011520828.1:p.Ala1227Val
XM_011522527.1:c.3680C>T	XP_011520829.1:p.Ala1227Val
XM_011522528.1:c.3656C>T	XP_011520830.1:p.Ala1219Val
XM_011522529.1:c.3656C>T	XP_011520831.1:p.Ala1219Val
XM_011522530.1:c.3626C>T	XP_011520832.1:p.Ala1209Val
XM_011522531.1:c.3608C>T	XP_011520833.1:p.Ala1203Val
XM_011522532.1:c.3554C>T	XP_011520834.1:p.Ala1185Val
XM_011522533.1:c.3473C>T	XP_011520835.1:p.Ala1158Val
XM_011522534.1:c.3416C>T	XP_011520836.1:p.Ala1139Val
XM_011522535.1:c.1502C>T	XP_011520837.1:p.Ala501Val
XM_011522536.1:c.3680C>T	XP_011520838.1:p.Ala1227Val
XM_011522537.1:c.680C>T	XP_011520839.1:p.Ala227Val
XR_932867.1:n.3695C>T
XR_932868.1:n.3695C>T
XR_932869.1:n.3695C>T
XR_932870.1:n.3695C>T
XM_005255370.3:c.557C>T	XP_005255427.1:p.Ala186Val
XM_011522528.3:c.3656C>T	XP_011520830.1:p.Ala1219Val
XM_011522529.2:c.3656C>T	XP_011520831.1:p.Ala1219Val
XM_011522537.2:c.680C>T	XP_011520839.1:p.Ala227Val
XM_024450298.1:c.3722C>T	XP_024306066.1:p.Ala1241Val
XM_024450299.1:c.3650C>T	XP_024306067.1:p.Ala1217Val
XM_024450300.1:c.3512C>T	XP_024306068.1:p.Ala1171Val
XM_024450301.1:c.1598C>T	XP_024306069.1:p.Ala533Val
NM_000296.4:c.3602C>T	NP_000287.4:p.Ala1201Val
NM_001009944.3:c.3602C>T MANE Select	NP_001009944.3:p.Ala1201Val