Canonical Allele Identifier: CA394394665

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118330A>G , CM000678.2:g.2118330A>G	GRCh38
NC_000016.9:g.2168331A>G , CM000678.1:g.2168331A>G	GRCh37
NC_000016.8:g.2108332A>G	NCBI36
NG_008617.1:g.22569T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.662T>C MANE Select	NP_001009944.3:p.Leu221Pro
ENST00000262304.9:c.662T>C MANE Select	ENSP00000262304.4:p.Leu221Pro
NM_000296.3:c.662T>C	NP_000287.3:p.Leu221Pro
NM_000296.4:c.662T>C	NP_000287.4:p.Leu221Pro
NM_001009944.2:c.662T>C	NP_001009944.2:p.Leu221Pro
ENST00000262304.8:c.662T>C	ENSP00000262304.4:p.Leu221Pro
ENST00000423118.5:c.662T>C	ENSP00000399501.1:p.Leu221Pro
XM_011522525.1:c.716T>C	XP_011520827.1:p.Leu239Pro
XM_011522526.1:c.716T>C	XP_011520828.1:p.Leu239Pro
XM_011522527.1:c.716T>C	XP_011520829.1:p.Leu239Pro
XM_011522528.1:c.716T>C	XP_011520830.1:p.Leu239Pro
XM_011522528.3:c.716T>C	XP_011520830.1:p.Leu239Pro
XM_011522529.1:c.716T>C	XP_011520831.1:p.Leu239Pro
XM_011522529.2:c.716T>C	XP_011520831.1:p.Leu239Pro
XM_011522530.1:c.662T>C	XP_011520832.1:p.Leu221Pro
XM_011522531.1:c.644T>C	XP_011520833.1:p.Leu215Pro
XM_011522532.1:c.590T>C	XP_011520834.1:p.Leu197Pro
XM_011522533.1:c.509T>C	XP_011520835.1:p.Leu170Pro
XM_011522534.1:c.452T>C	XP_011520836.1:p.Leu151Pro
XM_011522536.1:c.716T>C	XP_011520838.1:p.Leu239Pro
XM_024450298.1:c.662T>C	XP_024306066.1:p.Leu221Pro
XM_024450299.1:c.590T>C	XP_024306067.1:p.Leu197Pro
XM_024450300.1:c.452T>C	XP_024306068.1:p.Leu151Pro
XR_932867.1:n.731T>C
XR_932868.1:n.731T>C
XR_932869.1:n.731T>C
XR_932870.1:n.731T>C