Canonical Allele Identifier: CA394370437

Gene: PKD1

Linked Data

• dbSNP Id: rs140494005
• gnomAD v3: 16-2106607-G-T
• gnomAD v4: 16-2106607-G-T
• MyVariant Identifiers: chr16:g.2156608G>T (hg19) ; chr16:g.2106607G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106607G>T , CM000678.2:g.2106607G>T	GRCh38
NC_000016.9:g.2156608G>T , CM000678.1:g.2156608G>T	GRCh37
NC_000016.8:g.2096609G>T	NCBI36
NG_008617.1:g.34292C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.7280C>A MANE Select	ENSP00000262304.4:p.Ala2427Glu
ENST00000262304.8:c.7280C>A	ENSP00000262304.4:p.Ala2427Glu
ENST00000415938.7:n.525C>A
ENST00000423118.5:c.7280C>A	ENSP00000399501.1:p.Ala2427Glu
ENST00000483024.1:c.448C>A
ENST00000483558.5:n.339C>A
ENST00000483731.5:n.1005C>A
ENST00000486339.6:n.1026C>A
ENST00000487932.5:c.1967C>A	ENSP00000457132.1:p.Ala656Glu
ENST00000496574.6:n.1283C>A
ENST00000565639.6:n.988C>A
ENST00000568591.5:c.2441C>A	ENSP00000457162.1:n.2441C>A
ENST00000569983.5:n.636C>A
NM_000296.3:c.7280C>A	NP_000287.3:p.Ala2427Glu
NM_001009944.2:c.7280C>A	NP_001009944.2:p.Ala2427Glu
XM_005255370.2:c.4235C>A	XP_005255427.1:p.Ala1412Glu
XM_011522525.1:c.7358C>A	XP_011520827.1:p.Ala2453Glu
XM_011522526.1:c.7358C>A	XP_011520828.1:p.Ala2453Glu
XM_011522527.1:c.7358C>A	XP_011520829.1:p.Ala2453Glu
XM_011522528.1:c.7334C>A	XP_011520830.1:p.Ala2445Glu
XM_011522529.1:c.7334C>A	XP_011520831.1:p.Ala2445Glu
XM_011522530.1:c.7304C>A	XP_011520832.1:p.Ala2435Glu
XM_011522531.1:c.7286C>A	XP_011520833.1:p.Ala2429Glu
XM_011522532.1:c.7232C>A	XP_011520834.1:p.Ala2411Glu
XM_011522533.1:c.7151C>A	XP_011520835.1:p.Ala2384Glu
XM_011522534.1:c.7094C>A	XP_011520836.1:p.Ala2365Glu
XM_011522535.1:c.5180C>A	XP_011520837.1:p.Ala1727Glu
XM_011522536.1:c.7358C>A	XP_011520838.1:p.Ala2453Glu
XM_011522537.1:c.4358C>A	XP_011520839.1:p.Ala1453Glu
XR_932867.1:n.7373C>A
XR_932868.1:n.7373C>A
XR_932869.1:n.7373C>A
XR_932870.1:n.7373C>A
XM_005255370.3:c.4235C>A	XP_005255427.1:p.Ala1412Glu
XM_011522528.3:c.7334C>A	XP_011520830.1:p.Ala2445Glu
XM_011522529.2:c.7334C>A	XP_011520831.1:p.Ala2445Glu
XM_011522537.2:c.4358C>A	XP_011520839.1:p.Ala1453Glu
XM_024450298.1:c.7400C>A	XP_024306066.1:p.Ala2467Glu
XM_024450299.1:c.7328C>A	XP_024306067.1:p.Ala2443Glu
XM_024450300.1:c.7190C>A	XP_024306068.1:p.Ala2397Glu
XM_024450301.1:c.5276C>A	XP_024306069.1:p.Ala1759Glu
NM_000296.4:c.7280C>A	NP_000287.4:p.Ala2427Glu
NM_001009944.3:c.7280C>A MANE Select	NP_001009944.3:p.Ala2427Glu