Canonical Allele Identifier: CA493044969
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2144105G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094104G>A , CM000678.2:g.2094104G>A GRCh38
NC_000016.9:g.2144105G>A , CM000678.1:g.2144105G>A GRCh37
NC_000016.8:g.2084106G>A NCBI36
NG_008617.1:g.49117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10606C>T (PKD1) MANE Select ENSP00000262304.4:p.Leu3536=
ENST00000262304.8:c.10606C>T (PKD1) ENSP00000262304.4:p.Leu3536=
ENST00000423118.5:c.10603C>T (PKD1) ENSP00000399501.1:p.Leu3535=
ENST00000472659.1:n.43C>T (PKD1)
ENST00000487932.5:c.5168C>T (PKD1) ENSP00000457132.1:n.5168C>T
NM_000296.3:c.10603C>T (PKD1) NP_000287.3:p.Leu3535=
NM_001009944.2:c.10606C>T (PKD1) NP_001009944.2:p.Leu3536=
XM_005255370.2:c.7561C>T (PKD1) XP_005255427.1:p.Leu2521=
XM_011522525.1:c.10684C>T (PKD1) XP_011520827.1:p.Leu3562=
XM_011522526.1:c.10681C>T (PKD1) XP_011520828.1:p.Leu3561=
XM_011522527.1:c.10666C>T (PKD1) XP_011520829.1:p.Leu3556=
XM_011522528.1:c.10660C>T (PKD1) XP_011520830.1:p.Leu3554=
XM_011522529.1:c.10657C>T (PKD1) XP_011520831.1:p.Leu3553=
XM_011522530.1:c.10630C>T (PKD1) XP_011520832.1:p.Leu3544=
XM_011522531.1:c.10612C>T (PKD1) XP_011520833.1:p.Leu3538=
XM_011522532.1:c.10558C>T (PKD1) XP_011520834.1:p.Leu3520=
XM_011522533.1:c.10477C>T (PKD1) XP_011520835.1:p.Leu3493=
XM_011522534.1:c.10420C>T (PKD1) XP_011520836.1:p.Leu3474=
XM_011522535.1:c.8506C>T (PKD1) XP_011520837.1:p.Leu2836=
XM_011522537.1:c.7684C>T (PKD1) XP_011520839.1:p.Leu2562=
XR_932867.1:n.10699C>T (PKD1)
XR_932868.1:n.10699C>T (PKD1)
XR_932869.1:n.10699C>T (PKD1)
XR_932870.1:n.10699C>T (PKD1)
XR_933000.1:n.214-574G>A (PKD1-AS1)
XR_933001.1:n.304-617G>A (PKD1-AS1)
XR_933002.1:n.213-574G>A (PKD1-AS1)
XR_933003.1:n.213-617G>A (PKD1-AS1)
NR_135175.1:n.304-617G>A (PKD1-AS1)
XM_005255370.3:c.7561C>T (PKD1) XP_005255427.1:p.Leu2521=
XM_011522528.3:c.10660C>T (PKD1) XP_011520830.1:p.Leu3554=
XM_011522529.2:c.10657C>T (PKD1) XP_011520831.1:p.Leu3553=
XM_011522537.2:c.7684C>T (PKD1) XP_011520839.1:p.Leu2562=
XM_024450298.1:c.10726C>T (PKD1) XP_024306066.1:p.Leu3576=
XM_024450299.1:c.10654C>T (PKD1) XP_024306067.1:p.Leu3552=
XM_024450300.1:c.10516C>T (PKD1) XP_024306068.1:p.Leu3506=
XM_024450301.1:c.8602C>T (PKD1) XP_024306069.1:p.Leu2868=
NM_000296.4:c.10603C>T (PKD1) NP_000287.4:p.Leu3535=
NM_001009944.3:c.10606C>T (PKD1) MANE Select NP_001009944.3:p.Leu3536=