Canonical Allele Identifier: CA394369977

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156518T>G (hg19) ; chr16:g.2106517T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106517T>G , CM000678.2:g.2106517T>G	GRCh38
NC_000016.9:g.2156518T>G , CM000678.1:g.2156518T>G	GRCh37
NC_000016.8:g.2096519T>G	NCBI36
NG_008617.1:g.34382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7370A>C MANE Select	ENSP00000262304.4:p.Glu2457Ala
ENST00000262304.8:c.7370A>C	ENSP00000262304.4:p.Glu2457Ala
ENST00000415938.7:n.615A>C
ENST00000423118.5:c.7370A>C	ENSP00000399501.1:p.Glu2457Ala
ENST00000483558.5:n.429A>C
ENST00000483731.5:n.1095A>C
ENST00000486339.6:n.1116A>C
ENST00000487932.5:c.2057A>C	ENSP00000457132.1:p.Glu686Ala
ENST00000496574.6:n.1373A>C
ENST00000565639.6:n.1078A>C
ENST00000568591.5:c.2531A>C	ENSP00000457162.1:n.2531A>C
NM_000296.3:c.7370A>C	NP_000287.3:p.Glu2457Ala
NM_001009944.2:c.7370A>C	NP_001009944.2:p.Glu2457Ala
XM_005255370.2:c.4325A>C	XP_005255427.1:p.Glu1442Ala
XM_011522525.1:c.7448A>C	XP_011520827.1:p.Glu2483Ala
XM_011522526.1:c.7448A>C	XP_011520828.1:p.Glu2483Ala
XM_011522527.1:c.7448A>C	XP_011520829.1:p.Glu2483Ala
XM_011522528.1:c.7424A>C	XP_011520830.1:p.Glu2475Ala
XM_011522529.1:c.7424A>C	XP_011520831.1:p.Glu2475Ala
XM_011522530.1:c.7394A>C	XP_011520832.1:p.Glu2465Ala
XM_011522531.1:c.7376A>C	XP_011520833.1:p.Glu2459Ala
XM_011522532.1:c.7322A>C	XP_011520834.1:p.Glu2441Ala
XM_011522533.1:c.7241A>C	XP_011520835.1:p.Glu2414Ala
XM_011522534.1:c.7184A>C	XP_011520836.1:p.Glu2395Ala
XM_011522535.1:c.5270A>C	XP_011520837.1:p.Glu1757Ala
XM_011522536.1:c.7448A>C	XP_011520838.1:p.Glu2483Ala
XM_011522537.1:c.4448A>C	XP_011520839.1:p.Glu1483Ala
XR_932867.1:n.7463A>C
XR_932868.1:n.7463A>C
XR_932869.1:n.7463A>C
XR_932870.1:n.7463A>C
XM_005255370.3:c.4325A>C	XP_005255427.1:p.Glu1442Ala
XM_011522528.3:c.7424A>C	XP_011520830.1:p.Glu2475Ala
XM_011522529.2:c.7424A>C	XP_011520831.1:p.Glu2475Ala
XM_011522537.2:c.4448A>C	XP_011520839.1:p.Glu1483Ala
XM_024450298.1:c.7490A>C	XP_024306066.1:p.Glu2497Ala
XM_024450299.1:c.7418A>C	XP_024306067.1:p.Glu2473Ala
XM_024450300.1:c.7280A>C	XP_024306068.1:p.Glu2427Ala
XM_024450301.1:c.5366A>C	XP_024306069.1:p.Glu1789Ala
NM_000296.4:c.7370A>C	NP_000287.4:p.Glu2457Ala
NM_001009944.3:c.7370A>C MANE Select	NP_001009944.3:p.Glu2457Ala