Canonical Allele Identifier: CA7828950

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091017C>T , CM000678.2:g.2091017C>T	GRCh38
NC_000016.9:g.2141018C>T , CM000678.1:g.2141018C>T	GRCh37
NC_000016.8:g.2081019C>T	NCBI36
NG_005895.1:g.46712C>T , LRG_487:g.46712C>T
NG_008617.1:g.52204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11870G>A MANE Select	ENSP00000262304.4:p.Gly3957Asp
ENST00000262304.8:c.11870G>A	ENSP00000262304.4:p.Gly3957Asp
ENST00000423118.5:c.11867G>A	ENSP00000399501.1:p.Gly3956Asp
ENST00000487932.5:c.6432G>A	ENSP00000457132.1:n.6432G>A
ENST00000561668.5:c.531G>A
ENST00000564313.1:n.391G>A
NM_000296.3:c.11867G>A	NP_000287.3:p.Gly3956Asp
NM_001009944.2:c.11870G>A	NP_001009944.2:p.Gly3957Asp
XM_005255370.2:c.8825G>A	XP_005255427.1:p.Gly2942Asp
XM_011522525.1:c.11948G>A	XP_011520827.1:p.Gly3983Asp
XM_011522526.1:c.11945G>A	XP_011520828.1:p.Gly3982Asp
XM_011522527.1:c.11930G>A	XP_011520829.1:p.Gly3977Asp
XM_011522528.1:c.11924G>A	XP_011520830.1:p.Gly3975Asp
XM_011522529.1:c.11921G>A	XP_011520831.1:p.Gly3974Asp
XM_011522530.1:c.11894G>A	XP_011520832.1:p.Gly3965Asp
XM_011522531.1:c.11876G>A	XP_011520833.1:p.Gly3959Asp
XM_011522532.1:c.11822G>A	XP_011520834.1:p.Gly3941Asp
XM_011522533.1:c.11741G>A	XP_011520835.1:p.Gly3914Asp
XM_011522534.1:c.11684G>A	XP_011520836.1:p.Gly3895Asp
XM_011522535.1:c.9770G>A	XP_011520837.1:p.Gly3257Asp
XM_011522537.1:c.8948G>A	XP_011520839.1:p.Gly2983Asp
XR_932867.1:n.11788G>A
XR_932869.1:n.11535G>A
XM_005255370.3:c.8825G>A	XP_005255427.1:p.Gly2942Asp
XM_011522528.3:c.11924G>A	XP_011520830.1:p.Gly3975Asp
XM_011522529.2:c.11921G>A	XP_011520831.1:p.Gly3974Asp
XM_011522537.2:c.8948G>A	XP_011520839.1:p.Gly2983Asp
XM_024450298.1:c.11990G>A	XP_024306066.1:p.Gly3997Asp
XM_024450299.1:c.11918G>A	XP_024306067.1:p.Gly3973Asp
XM_024450300.1:c.11780G>A	XP_024306068.1:p.Gly3927Asp
XM_024450301.1:c.9866G>A	XP_024306069.1:p.Gly3289Asp
NM_000296.4:c.11867G>A	NP_000287.4:p.Gly3956Asp
NM_001009944.3:c.11870G>A MANE Select	NP_001009944.3:p.Gly3957Asp