Canonical Allele Identifier: CA394389298

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1805105
• ClinVar RCV Id: RCV002471523
• gnomAD v4: 16-2114884-G-T
• MyVariant Identifiers: chr16:g.2164885G>T (hg19) ; chr16:g.2114884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114884G>T , CM000678.2:g.2114884G>T	GRCh38
NC_000016.9:g.2164885G>T , CM000678.1:g.2164885G>T	GRCh37
NC_000016.8:g.2104886G>T	NCBI36
NG_008617.1:g.26015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2139C>A MANE Select	ENSP00000262304.4:p.Asp713Glu
ENST00000262304.8:c.2139C>A	ENSP00000262304.4:p.Asp713Glu
ENST00000423118.5:c.2139C>A	ENSP00000399501.1:p.Asp713Glu
ENST00000488185.2:c.472+2605C>A
ENST00000568591.5:c.1070C>A	ENSP00000457162.1:n.1070C>A
NM_000296.3:c.2139C>A	NP_000287.3:p.Asp713Glu
NM_001009944.2:c.2139C>A	NP_001009944.2:p.Asp713Glu
XM_011522525.1:c.2193C>A	XP_011520827.1:p.Asp731Glu
XM_011522526.1:c.2193C>A	XP_011520828.1:p.Asp731Glu
XM_011522527.1:c.2193C>A	XP_011520829.1:p.Asp731Glu
XM_011522528.1:c.2193C>A	XP_011520830.1:p.Asp731Glu
XM_011522529.1:c.2193C>A	XP_011520831.1:p.Asp731Glu
XM_011522530.1:c.2139C>A	XP_011520832.1:p.Asp713Glu
XM_011522531.1:c.2121C>A	XP_011520833.1:p.Asp707Glu
XM_011522532.1:c.2067C>A	XP_011520834.1:p.Asp689Glu
XM_011522533.1:c.1986C>A	XP_011520835.1:p.Asp662Glu
XM_011522534.1:c.1929C>A	XP_011520836.1:p.Asp643Glu
XM_011522535.1:c.15C>A	XP_011520837.1:p.Asp5Glu
XM_011522536.1:c.2193C>A	XP_011520838.1:p.Asp731Glu
XR_932867.1:n.2208C>A
XR_932868.1:n.2208C>A
XR_932869.1:n.2208C>A
XR_932870.1:n.2208C>A
XM_011522528.3:c.2193C>A	XP_011520830.1:p.Asp731Glu
XM_011522529.2:c.2193C>A	XP_011520831.1:p.Asp731Glu
XM_024450298.1:c.2139C>A	XP_024306066.1:p.Asp713Glu
XM_024450299.1:c.2067C>A	XP_024306067.1:p.Asp689Glu
XM_024450300.1:c.1929C>A	XP_024306068.1:p.Asp643Glu
XM_024450301.1:c.15C>A	XP_024306069.1:p.Asp5Glu
NM_000296.4:c.2139C>A	NP_000287.4:p.Asp713Glu
NM_001009944.3:c.2139C>A MANE Select	NP_001009944.3:p.Asp713Glu