Canonical Allele Identifier: CA394370134

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156551A>C (hg19) ; chr16:g.2106550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106550A>C , CM000678.2:g.2106550A>C	GRCh38
NC_000016.9:g.2156551A>C , CM000678.1:g.2156551A>C	GRCh37
NC_000016.8:g.2096552A>C	NCBI36
NG_008617.1:g.34349T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7337T>G MANE Select	ENSP00000262304.4:p.Phe2446Cys
ENST00000262304.8:c.7337T>G	ENSP00000262304.4:p.Phe2446Cys
ENST00000415938.7:n.582T>G
ENST00000423118.5:c.7337T>G	ENSP00000399501.1:p.Phe2446Cys
ENST00000483558.5:n.396T>G
ENST00000483731.5:n.1062T>G
ENST00000486339.6:n.1083T>G
ENST00000487932.5:c.2024T>G	ENSP00000457132.1:p.Phe675Cys
ENST00000496574.6:n.1340T>G
ENST00000565639.6:n.1045T>G
ENST00000568591.5:c.2498T>G	ENSP00000457162.1:n.2498T>G
ENST00000569983.5:n.693T>G
NM_000296.3:c.7337T>G	NP_000287.3:p.Phe2446Cys
NM_001009944.2:c.7337T>G	NP_001009944.2:p.Phe2446Cys
XM_005255370.2:c.4292T>G	XP_005255427.1:p.Phe1431Cys
XM_011522525.1:c.7415T>G	XP_011520827.1:p.Phe2472Cys
XM_011522526.1:c.7415T>G	XP_011520828.1:p.Phe2472Cys
XM_011522527.1:c.7415T>G	XP_011520829.1:p.Phe2472Cys
XM_011522528.1:c.7391T>G	XP_011520830.1:p.Phe2464Cys
XM_011522529.1:c.7391T>G	XP_011520831.1:p.Phe2464Cys
XM_011522530.1:c.7361T>G	XP_011520832.1:p.Phe2454Cys
XM_011522531.1:c.7343T>G	XP_011520833.1:p.Phe2448Cys
XM_011522532.1:c.7289T>G	XP_011520834.1:p.Phe2430Cys
XM_011522533.1:c.7208T>G	XP_011520835.1:p.Phe2403Cys
XM_011522534.1:c.7151T>G	XP_011520836.1:p.Phe2384Cys
XM_011522535.1:c.5237T>G	XP_011520837.1:p.Phe1746Cys
XM_011522536.1:c.7415T>G	XP_011520838.1:p.Phe2472Cys
XM_011522537.1:c.4415T>G	XP_011520839.1:p.Phe1472Cys
XR_932867.1:n.7430T>G
XR_932868.1:n.7430T>G
XR_932869.1:n.7430T>G
XR_932870.1:n.7430T>G
XM_005255370.3:c.4292T>G	XP_005255427.1:p.Phe1431Cys
XM_011522528.3:c.7391T>G	XP_011520830.1:p.Phe2464Cys
XM_011522529.2:c.7391T>G	XP_011520831.1:p.Phe2464Cys
XM_011522537.2:c.4415T>G	XP_011520839.1:p.Phe1472Cys
XM_024450298.1:c.7457T>G	XP_024306066.1:p.Phe2486Cys
XM_024450299.1:c.7385T>G	XP_024306067.1:p.Phe2462Cys
XM_024450300.1:c.7247T>G	XP_024306068.1:p.Phe2416Cys
XM_024450301.1:c.5333T>G	XP_024306069.1:p.Phe1778Cys
NM_000296.4:c.7337T>G	NP_000287.4:p.Phe2446Cys
NM_001009944.3:c.7337T>G MANE Select	NP_001009944.3:p.Phe2446Cys