Canonical Allele Identifier: CA394371091

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156631C>G (hg19) ; chr16:g.2106630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106630C>G , CM000678.2:g.2106630C>G	GRCh38
NC_000016.9:g.2156631C>G , CM000678.1:g.2156631C>G	GRCh37
NC_000016.8:g.2096632C>G	NCBI36
NG_008617.1:g.34269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7257G>C MANE Select	ENSP00000262304.4:p.Glu2419Asp
ENST00000262304.8:c.7257G>C	ENSP00000262304.4:p.Glu2419Asp
ENST00000415938.7:n.502G>C
ENST00000423118.5:c.7257G>C	ENSP00000399501.1:p.Glu2419Asp
ENST00000483024.1:c.425G>C
ENST00000483558.5:n.316G>C
ENST00000483731.5:n.982G>C
ENST00000486339.6:n.1003G>C
ENST00000487932.5:c.1944G>C	ENSP00000457132.1:p.Glu648Asp
ENST00000496574.6:n.1260G>C
ENST00000565639.6:n.965G>C
ENST00000568591.5:c.2418G>C	ENSP00000457162.1:n.2418G>C
ENST00000569983.5:n.613G>C
NM_000296.3:c.7257G>C	NP_000287.3:p.Glu2419Asp
NM_001009944.2:c.7257G>C	NP_001009944.2:p.Glu2419Asp
XM_005255370.2:c.4212G>C	XP_005255427.1:p.Glu1404Asp
XM_011522525.1:c.7335G>C	XP_011520827.1:p.Glu2445Asp
XM_011522526.1:c.7335G>C	XP_011520828.1:p.Glu2445Asp
XM_011522527.1:c.7335G>C	XP_011520829.1:p.Glu2445Asp
XM_011522528.1:c.7311G>C	XP_011520830.1:p.Glu2437Asp
XM_011522529.1:c.7311G>C	XP_011520831.1:p.Glu2437Asp
XM_011522530.1:c.7281G>C	XP_011520832.1:p.Glu2427Asp
XM_011522531.1:c.7263G>C	XP_011520833.1:p.Glu2421Asp
XM_011522532.1:c.7209G>C	XP_011520834.1:p.Glu2403Asp
XM_011522533.1:c.7128G>C	XP_011520835.1:p.Glu2376Asp
XM_011522534.1:c.7071G>C	XP_011520836.1:p.Glu2357Asp
XM_011522535.1:c.5157G>C	XP_011520837.1:p.Glu1719Asp
XM_011522536.1:c.7335G>C	XP_011520838.1:p.Glu2445Asp
XM_011522537.1:c.4335G>C	XP_011520839.1:p.Glu1445Asp
XR_932867.1:n.7350G>C
XR_932868.1:n.7350G>C
XR_932869.1:n.7350G>C
XR_932870.1:n.7350G>C
XM_005255370.3:c.4212G>C	XP_005255427.1:p.Glu1404Asp
XM_011522528.3:c.7311G>C	XP_011520830.1:p.Glu2437Asp
XM_011522529.2:c.7311G>C	XP_011520831.1:p.Glu2437Asp
XM_011522537.2:c.4335G>C	XP_011520839.1:p.Glu1445Asp
XM_024450298.1:c.7377G>C	XP_024306066.1:p.Glu2459Asp
XM_024450299.1:c.7305G>C	XP_024306067.1:p.Glu2435Asp
XM_024450300.1:c.7167G>C	XP_024306068.1:p.Glu2389Asp
XM_024450301.1:c.5253G>C	XP_024306069.1:p.Glu1751Asp
NM_000296.4:c.7257G>C	NP_000287.4:p.Glu2419Asp
NM_001009944.3:c.7257G>C MANE Select	NP_001009944.3:p.Glu2419Asp