Canonical Allele Identifier: CA394370222

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156564C>G (hg19) ; chr16:g.2106563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106563C>G , CM000678.2:g.2106563C>G	GRCh38
NC_000016.9:g.2156564C>G , CM000678.1:g.2156564C>G	GRCh37
NC_000016.8:g.2096565C>G	NCBI36
NG_008617.1:g.34336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7324G>C MANE Select	ENSP00000262304.4:p.Glu2442Gln
ENST00000262304.8:c.7324G>C	ENSP00000262304.4:p.Glu2442Gln
ENST00000415938.7:n.569G>C
ENST00000423118.5:c.7324G>C	ENSP00000399501.1:p.Glu2442Gln
ENST00000483558.5:n.383G>C
ENST00000483731.5:n.1049G>C
ENST00000486339.6:n.1070G>C
ENST00000487932.5:c.2011G>C	ENSP00000457132.1:p.Glu671Gln
ENST00000496574.6:n.1327G>C
ENST00000565639.6:n.1032G>C
ENST00000568591.5:c.2485G>C	ENSP00000457162.1:n.2485G>C
ENST00000569983.5:n.680G>C
NM_000296.3:c.7324G>C	NP_000287.3:p.Glu2442Gln
NM_001009944.2:c.7324G>C	NP_001009944.2:p.Glu2442Gln
XM_005255370.2:c.4279G>C	XP_005255427.1:p.Glu1427Gln
XM_011522525.1:c.7402G>C	XP_011520827.1:p.Glu2468Gln
XM_011522526.1:c.7402G>C	XP_011520828.1:p.Glu2468Gln
XM_011522527.1:c.7402G>C	XP_011520829.1:p.Glu2468Gln
XM_011522528.1:c.7378G>C	XP_011520830.1:p.Glu2460Gln
XM_011522529.1:c.7378G>C	XP_011520831.1:p.Glu2460Gln
XM_011522530.1:c.7348G>C	XP_011520832.1:p.Glu2450Gln
XM_011522531.1:c.7330G>C	XP_011520833.1:p.Glu2444Gln
XM_011522532.1:c.7276G>C	XP_011520834.1:p.Glu2426Gln
XM_011522533.1:c.7195G>C	XP_011520835.1:p.Glu2399Gln
XM_011522534.1:c.7138G>C	XP_011520836.1:p.Glu2380Gln
XM_011522535.1:c.5224G>C	XP_011520837.1:p.Glu1742Gln
XM_011522536.1:c.7402G>C	XP_011520838.1:p.Glu2468Gln
XM_011522537.1:c.4402G>C	XP_011520839.1:p.Glu1468Gln
XR_932867.1:n.7417G>C
XR_932868.1:n.7417G>C
XR_932869.1:n.7417G>C
XR_932870.1:n.7417G>C
XM_005255370.3:c.4279G>C	XP_005255427.1:p.Glu1427Gln
XM_011522528.3:c.7378G>C	XP_011520830.1:p.Glu2460Gln
XM_011522529.2:c.7378G>C	XP_011520831.1:p.Glu2460Gln
XM_011522537.2:c.4402G>C	XP_011520839.1:p.Glu1468Gln
XM_024450298.1:c.7444G>C	XP_024306066.1:p.Glu2482Gln
XM_024450299.1:c.7372G>C	XP_024306067.1:p.Glu2458Gln
XM_024450300.1:c.7234G>C	XP_024306068.1:p.Glu2412Gln
XM_024450301.1:c.5320G>C	XP_024306069.1:p.Glu1774Gln
NM_000296.4:c.7324G>C	NP_000287.4:p.Glu2442Gln
NM_001009944.3:c.7324G>C MANE Select	NP_001009944.3:p.Glu2442Gln