Canonical Allele Identifier: CA493046794

Gene: PKD1

Linked Data

• dbSNP Id: rs776229960
• MyVariant Identifiers: chr16:g.2156607T>G (hg19) ; chr16:g.2106606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106606T>G , CM000678.2:g.2106606T>G	GRCh38
NC_000016.9:g.2156607T>G , CM000678.1:g.2156607T>G	GRCh37
NC_000016.8:g.2096608T>G	NCBI36
NG_008617.1:g.34293A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.7281A>C MANE Select	ENSP00000262304.4:p.Ala2427=
ENST00000262304.8:c.7281A>C	ENSP00000262304.4:p.Ala2427=
ENST00000415938.7:n.526A>C
ENST00000423118.5:c.7281A>C	ENSP00000399501.1:p.Ala2427=
ENST00000483024.1:c.449A>C
ENST00000483558.5:n.340A>C
ENST00000483731.5:n.1006A>C
ENST00000486339.6:n.1027A>C
ENST00000487932.5:c.1968A>C	ENSP00000457132.1:p.Ala656=
ENST00000496574.6:n.1284A>C
ENST00000565639.6:n.989A>C
ENST00000568591.5:c.2442A>C	ENSP00000457162.1:n.2442A>C
ENST00000569983.5:n.637A>C
NM_000296.3:c.7281A>C	NP_000287.3:p.Ala2427=
NM_001009944.2:c.7281A>C	NP_001009944.2:p.Ala2427=
XM_005255370.2:c.4236A>C	XP_005255427.1:p.Ala1412=
XM_011522525.1:c.7359A>C	XP_011520827.1:p.Ala2453=
XM_011522526.1:c.7359A>C	XP_011520828.1:p.Ala2453=
XM_011522527.1:c.7359A>C	XP_011520829.1:p.Ala2453=
XM_011522528.1:c.7335A>C	XP_011520830.1:p.Ala2445=
XM_011522529.1:c.7335A>C	XP_011520831.1:p.Ala2445=
XM_011522530.1:c.7305A>C	XP_011520832.1:p.Ala2435=
XM_011522531.1:c.7287A>C	XP_011520833.1:p.Ala2429=
XM_011522532.1:c.7233A>C	XP_011520834.1:p.Ala2411=
XM_011522533.1:c.7152A>C	XP_011520835.1:p.Ala2384=
XM_011522534.1:c.7095A>C	XP_011520836.1:p.Ala2365=
XM_011522535.1:c.5181A>C	XP_011520837.1:p.Ala1727=
XM_011522536.1:c.7359A>C	XP_011520838.1:p.Ala2453=
XM_011522537.1:c.4359A>C	XP_011520839.1:p.Ala1453=
XR_932867.1:n.7374A>C
XR_932868.1:n.7374A>C
XR_932869.1:n.7374A>C
XR_932870.1:n.7374A>C
XM_005255370.3:c.4236A>C	XP_005255427.1:p.Ala1412=
XM_011522528.3:c.7335A>C	XP_011520830.1:p.Ala2445=
XM_011522529.2:c.7335A>C	XP_011520831.1:p.Ala2445=
XM_011522537.2:c.4359A>C	XP_011520839.1:p.Ala1453=
XM_024450298.1:c.7401A>C	XP_024306066.1:p.Ala2467=
XM_024450299.1:c.7329A>C	XP_024306067.1:p.Ala2443=
XM_024450300.1:c.7191A>C	XP_024306068.1:p.Ala2397=
XM_024450301.1:c.5277A>C	XP_024306069.1:p.Ala1759=
NM_000296.4:c.7281A>C	NP_000287.4:p.Ala2427=
NM_001009944.3:c.7281A>C MANE Select	NP_001009944.3:p.Ala2427=