Canonical Allele Identifier: CA394382720

Gene: PKD1

Linked Data

• ClinVar Variation Id: 972855
• ClinVar RCV Id: RCV001249137
• dbSNP Id: rs2092505450
• MyVariant Identifiers: chr16:g.2161537C>A (hg19) ; chr16:g.2111536C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111536C>A , CM000678.2:g.2111536C>A	GRCh38
NC_000016.9:g.2161537C>A , CM000678.1:g.2161537C>A	GRCh37
NC_000016.8:g.2101538C>A	NCBI36
NG_008617.1:g.29363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3631G>T MANE Select	ENSP00000262304.4:p.Glu1211Ter
ENST00000262304.8:c.3631G>T	ENSP00000262304.4:p.Glu1211Ter
ENST00000415938.7:n.310+804G>T
ENST00000423118.5:c.3631G>T	ENSP00000399501.1:p.Glu1211Ter
ENST00000468674.5:n.430+804G>T
ENST00000469241.2:n.581G>T
ENST00000483024.1:c.233+280G>T
ENST00000483731.5:n.790+804G>T
ENST00000488185.2:c.473-3178G>T
ENST00000565639.6:n.773+804G>T
ENST00000568591.5:c.2226+804G>T	ENSP00000457162.1:n.2226+804G>T
ENST00000569983.5:n.421+804G>T
NM_000296.3:c.3631G>T	NP_000287.3:p.Glu1211Ter
NM_001009944.2:c.3631G>T	NP_001009944.2:p.Glu1211Ter
XM_005255370.2:c.586G>T	XP_005255427.1:p.Glu196Ter
XM_011522525.1:c.3709G>T	XP_011520827.1:p.Glu1237Ter
XM_011522526.1:c.3709G>T	XP_011520828.1:p.Glu1237Ter
XM_011522527.1:c.3709G>T	XP_011520829.1:p.Glu1237Ter
XM_011522528.1:c.3685G>T	XP_011520830.1:p.Glu1229Ter
XM_011522529.1:c.3685G>T	XP_011520831.1:p.Glu1229Ter
XM_011522530.1:c.3655G>T	XP_011520832.1:p.Glu1219Ter
XM_011522531.1:c.3637G>T	XP_011520833.1:p.Glu1213Ter
XM_011522532.1:c.3583G>T	XP_011520834.1:p.Glu1195Ter
XM_011522533.1:c.3502G>T	XP_011520835.1:p.Glu1168Ter
XM_011522534.1:c.3445G>T	XP_011520836.1:p.Glu1149Ter
XM_011522535.1:c.1531G>T	XP_011520837.1:p.Glu511Ter
XM_011522536.1:c.3709G>T	XP_011520838.1:p.Glu1237Ter
XM_011522537.1:c.709G>T	XP_011520839.1:p.Glu237Ter
XR_932867.1:n.3724G>T
XR_932868.1:n.3724G>T
XR_932869.1:n.3724G>T
XR_932870.1:n.3724G>T
XM_005255370.3:c.586G>T	XP_005255427.1:p.Glu196Ter
XM_011522528.3:c.3685G>T	XP_011520830.1:p.Glu1229Ter
XM_011522529.2:c.3685G>T	XP_011520831.1:p.Glu1229Ter
XM_011522537.2:c.709G>T	XP_011520839.1:p.Glu237Ter
XM_024450298.1:c.3751G>T	XP_024306066.1:p.Glu1251Ter
XM_024450299.1:c.3679G>T	XP_024306067.1:p.Glu1227Ter
XM_024450300.1:c.3541G>T	XP_024306068.1:p.Glu1181Ter
XM_024450301.1:c.1627G>T	XP_024306069.1:p.Glu543Ter
NM_000296.4:c.3631G>T	NP_000287.4:p.Glu1211Ter
NM_001009944.3:c.3631G>T MANE Select	NP_001009944.3:p.Glu1211Ter