Canonical Allele Identifier: CA394370126

Gene: PKD1

Linked Data

• dbSNP Id: rs2092343021
• gnomAD v4: 16-2106549-G-C
• MyVariant Identifiers: chr16:g.2156550G>C (hg19) ; chr16:g.2106549G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7338C>G MANE Select	ENSP00000262304.4:p.Phe2446Leu
ENST00000262304.8:c.7338C>G	ENSP00000262304.4:p.Phe2446Leu
ENST00000415938.7:n.583C>G
ENST00000423118.5:c.7338C>G	ENSP00000399501.1:p.Phe2446Leu
ENST00000483558.5:n.397C>G
ENST00000483731.5:n.1063C>G
ENST00000486339.6:n.1084C>G
ENST00000487932.5:c.2025C>G	ENSP00000457132.1:p.Phe675Leu
ENST00000496574.6:n.1341C>G
ENST00000565639.6:n.1046C>G
ENST00000568591.5:c.2499C>G	ENSP00000457162.1:n.2499C>G
ENST00000569983.5:n.694C>G
NM_000296.3:c.7338C>G	NP_000287.3:p.Phe2446Leu
NM_001009944.2:c.7338C>G	NP_001009944.2:p.Phe2446Leu
XM_005255370.2:c.4293C>G	XP_005255427.1:p.Phe1431Leu
XM_011522525.1:c.7416C>G	XP_011520827.1:p.Phe2472Leu
XM_011522526.1:c.7416C>G	XP_011520828.1:p.Phe2472Leu
XM_011522527.1:c.7416C>G	XP_011520829.1:p.Phe2472Leu
XM_011522528.1:c.7392C>G	XP_011520830.1:p.Phe2464Leu
XM_011522529.1:c.7392C>G	XP_011520831.1:p.Phe2464Leu
XM_011522530.1:c.7362C>G	XP_011520832.1:p.Phe2454Leu
XM_011522531.1:c.7344C>G	XP_011520833.1:p.Phe2448Leu
XM_011522532.1:c.7290C>G	XP_011520834.1:p.Phe2430Leu
XM_011522533.1:c.7209C>G	XP_011520835.1:p.Phe2403Leu
XM_011522534.1:c.7152C>G	XP_011520836.1:p.Phe2384Leu
XM_011522535.1:c.5238C>G	XP_011520837.1:p.Phe1746Leu
XM_011522536.1:c.7416C>G	XP_011520838.1:p.Phe2472Leu
XM_011522537.1:c.4416C>G	XP_011520839.1:p.Phe1472Leu
XR_932867.1:n.7431C>G
XR_932868.1:n.7431C>G
XR_932869.1:n.7431C>G
XR_932870.1:n.7431C>G
XM_005255370.3:c.4293C>G	XP_005255427.1:p.Phe1431Leu
XM_011522528.3:c.7392C>G	XP_011520830.1:p.Phe2464Leu
XM_011522529.2:c.7392C>G	XP_011520831.1:p.Phe2464Leu
XM_011522537.2:c.4416C>G	XP_011520839.1:p.Phe1472Leu
XM_024450298.1:c.7458C>G	XP_024306066.1:p.Phe2486Leu
XM_024450299.1:c.7386C>G	XP_024306067.1:p.Phe2462Leu
XM_024450300.1:c.7248C>G	XP_024306068.1:p.Phe2416Leu
XM_024450301.1:c.5334C>G	XP_024306069.1:p.Phe1778Leu
NM_000296.4:c.7338C>G	NP_000287.4:p.Phe2446Leu
NM_001009944.3:c.7338C>G MANE Select	NP_001009944.3:p.Phe2446Leu