Canonical Allele Identifier: CA7833613

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118021C>T , CM000678.2:g.2118021C>T	GRCh38
NC_000016.9:g.2168022C>T , CM000678.1:g.2168022C>T	GRCh37
NC_000016.8:g.2108023C>T	NCBI36
NG_008617.1:g.22878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.971G>A MANE Select	ENSP00000262304.4:p.Arg324His
ENST00000262304.8:c.971G>A	ENSP00000262304.4:p.Arg324His
ENST00000423118.5:c.971G>A	ENSP00000399501.1:p.Arg324His
ENST00000488185.2:c.58G>A
ENST00000570150.1:n.104G>A
NM_000296.3:c.971G>A	NP_000287.3:p.Arg324His
NM_001009944.2:c.971G>A	NP_001009944.2:p.Arg324His
XM_011522525.1:c.1025G>A	XP_011520827.1:p.Arg342His
XM_011522526.1:c.1025G>A	XP_011520828.1:p.Arg342His
XM_011522527.1:c.1025G>A	XP_011520829.1:p.Arg342His
XM_011522528.1:c.1025G>A	XP_011520830.1:p.Arg342His
XM_011522529.1:c.1025G>A	XP_011520831.1:p.Arg342His
XM_011522530.1:c.971G>A	XP_011520832.1:p.Arg324His
XM_011522531.1:c.953G>A	XP_011520833.1:p.Arg318His
XM_011522532.1:c.899G>A	XP_011520834.1:p.Arg300His
XM_011522533.1:c.818G>A	XP_011520835.1:p.Arg273His
XM_011522534.1:c.761G>A	XP_011520836.1:p.Arg254His
XM_011522536.1:c.1025G>A	XP_011520838.1:p.Arg342His
XR_932867.1:n.1040G>A
XR_932868.1:n.1040G>A
XR_932869.1:n.1040G>A
XR_932870.1:n.1040G>A
XM_011522528.3:c.1025G>A	XP_011520830.1:p.Arg342His
XM_011522529.2:c.1025G>A	XP_011520831.1:p.Arg342His
XM_024450298.1:c.971G>A	XP_024306066.1:p.Arg324His
XM_024450299.1:c.899G>A	XP_024306067.1:p.Arg300His
XM_024450300.1:c.761G>A	XP_024306068.1:p.Arg254His
NM_000296.4:c.971G>A	NP_000287.4:p.Arg324His
NM_001009944.3:c.971G>A MANE Select	NP_001009944.3:p.Arg324His