Canonical Allele Identifier: CA493046744

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106549-G-A
• MyVariant Identifiers: chr16:g.2156550G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106549G>A , CM000678.2:g.2106549G>A	GRCh38
NC_000016.9:g.2156550G>A , CM000678.1:g.2156550G>A	GRCh37
NC_000016.8:g.2096551G>A	NCBI36
NG_008617.1:g.34350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7338C>T MANE Select	ENSP00000262304.4:p.Phe2446=
ENST00000262304.8:c.7338C>T	ENSP00000262304.4:p.Phe2446=
ENST00000415938.7:n.583C>T
ENST00000423118.5:c.7338C>T	ENSP00000399501.1:p.Phe2446=
ENST00000483558.5:n.397C>T
ENST00000483731.5:n.1063C>T
ENST00000486339.6:n.1084C>T
ENST00000487932.5:c.2025C>T	ENSP00000457132.1:p.Phe675=
ENST00000496574.6:n.1341C>T
ENST00000565639.6:n.1046C>T
ENST00000568591.5:c.2499C>T	ENSP00000457162.1:n.2499C>T
ENST00000569983.5:n.694C>T
NM_000296.3:c.7338C>T	NP_000287.3:p.Phe2446=
NM_001009944.2:c.7338C>T	NP_001009944.2:p.Phe2446=
XM_005255370.2:c.4293C>T	XP_005255427.1:p.Phe1431=
XM_011522525.1:c.7416C>T	XP_011520827.1:p.Phe2472=
XM_011522526.1:c.7416C>T	XP_011520828.1:p.Phe2472=
XM_011522527.1:c.7416C>T	XP_011520829.1:p.Phe2472=
XM_011522528.1:c.7392C>T	XP_011520830.1:p.Phe2464=
XM_011522529.1:c.7392C>T	XP_011520831.1:p.Phe2464=
XM_011522530.1:c.7362C>T	XP_011520832.1:p.Phe2454=
XM_011522531.1:c.7344C>T	XP_011520833.1:p.Phe2448=
XM_011522532.1:c.7290C>T	XP_011520834.1:p.Phe2430=
XM_011522533.1:c.7209C>T	XP_011520835.1:p.Phe2403=
XM_011522534.1:c.7152C>T	XP_011520836.1:p.Phe2384=
XM_011522535.1:c.5238C>T	XP_011520837.1:p.Phe1746=
XM_011522536.1:c.7416C>T	XP_011520838.1:p.Phe2472=
XM_011522537.1:c.4416C>T	XP_011520839.1:p.Phe1472=
XR_932867.1:n.7431C>T
XR_932868.1:n.7431C>T
XR_932869.1:n.7431C>T
XR_932870.1:n.7431C>T
XM_005255370.3:c.4293C>T	XP_005255427.1:p.Phe1431=
XM_011522528.3:c.7392C>T	XP_011520830.1:p.Phe2464=
XM_011522529.2:c.7392C>T	XP_011520831.1:p.Phe2464=
XM_011522537.2:c.4416C>T	XP_011520839.1:p.Phe1472=
XM_024450298.1:c.7458C>T	XP_024306066.1:p.Phe2486=
XM_024450299.1:c.7386C>T	XP_024306067.1:p.Phe2462=
XM_024450300.1:c.7248C>T	XP_024306068.1:p.Phe2416=
XM_024450301.1:c.5334C>T	XP_024306069.1:p.Phe1778=
NM_000296.4:c.7338C>T	NP_000287.4:p.Phe2446=
NM_001009944.3:c.7338C>T MANE Select	NP_001009944.3:p.Phe2446=