Canonical Allele Identifier: CA394382788

Gene: PKD1

Linked Data

• dbSNP Id: rs550230113
• gnomAD v4: 16-2111572-C-A
• MyVariant Identifiers: chr16:g.2161573C>A (hg19) ; chr16:g.2111572C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111572C>A , CM000678.2:g.2111572C>A	GRCh38
NC_000016.9:g.2161573C>A , CM000678.1:g.2161573C>A	GRCh37
NC_000016.8:g.2101574C>A	NCBI36
NG_008617.1:g.29327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3595G>T MANE Select	ENSP00000262304.4:p.Gly1199Cys
ENST00000262304.8:c.3595G>T	ENSP00000262304.4:p.Gly1199Cys
ENST00000415938.7:n.310+768G>T
ENST00000423118.5:c.3595G>T	ENSP00000399501.1:p.Gly1199Cys
ENST00000468674.5:n.430+768G>T
ENST00000469241.2:n.545G>T
ENST00000483024.1:c.233+244G>T
ENST00000483731.5:n.790+768G>T
ENST00000488185.2:c.473-3214G>T
ENST00000565639.6:n.773+768G>T
ENST00000568591.5:c.2226+768G>T	ENSP00000457162.1:n.2226+768G>T
ENST00000569983.5:n.421+768G>T
NM_000296.3:c.3595G>T	NP_000287.3:p.Gly1199Cys
NM_001009944.2:c.3595G>T	NP_001009944.2:p.Gly1199Cys
XM_005255370.2:c.550G>T	XP_005255427.1:p.Gly184Cys
XM_011522525.1:c.3673G>T	XP_011520827.1:p.Gly1225Cys
XM_011522526.1:c.3673G>T	XP_011520828.1:p.Gly1225Cys
XM_011522527.1:c.3673G>T	XP_011520829.1:p.Gly1225Cys
XM_011522528.1:c.3649G>T	XP_011520830.1:p.Gly1217Cys
XM_011522529.1:c.3649G>T	XP_011520831.1:p.Gly1217Cys
XM_011522530.1:c.3619G>T	XP_011520832.1:p.Gly1207Cys
XM_011522531.1:c.3601G>T	XP_011520833.1:p.Gly1201Cys
XM_011522532.1:c.3547G>T	XP_011520834.1:p.Gly1183Cys
XM_011522533.1:c.3466G>T	XP_011520835.1:p.Gly1156Cys
XM_011522534.1:c.3409G>T	XP_011520836.1:p.Gly1137Cys
XM_011522535.1:c.1495G>T	XP_011520837.1:p.Gly499Cys
XM_011522536.1:c.3673G>T	XP_011520838.1:p.Gly1225Cys
XM_011522537.1:c.673G>T	XP_011520839.1:p.Gly225Cys
XR_932867.1:n.3688G>T
XR_932868.1:n.3688G>T
XR_932869.1:n.3688G>T
XR_932870.1:n.3688G>T
XM_005255370.3:c.550G>T	XP_005255427.1:p.Gly184Cys
XM_011522528.3:c.3649G>T	XP_011520830.1:p.Gly1217Cys
XM_011522529.2:c.3649G>T	XP_011520831.1:p.Gly1217Cys
XM_011522537.2:c.673G>T	XP_011520839.1:p.Gly225Cys
XM_024450298.1:c.3715G>T	XP_024306066.1:p.Gly1239Cys
XM_024450299.1:c.3643G>T	XP_024306067.1:p.Gly1215Cys
XM_024450300.1:c.3505G>T	XP_024306068.1:p.Gly1169Cys
XM_024450301.1:c.1591G>T	XP_024306069.1:p.Gly531Cys
NM_000296.4:c.3595G>T	NP_000287.4:p.Gly1199Cys
NM_001009944.3:c.3595G>T MANE Select	NP_001009944.3:p.Gly1199Cys