Canonical Allele Identifier: CA7828844

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090737C>T , CM000678.2:g.2090737C>T	GRCh38
NC_000016.9:g.2140738C>T , CM000678.1:g.2140738C>T	GRCh37
NC_000016.8:g.2080739C>T	NCBI36
NG_005895.1:g.46432C>T , LRG_487:g.46432C>T
NG_008617.1:g.52484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12075G>A MANE Select	ENSP00000262304.4:p.Glu4025=
ENST00000262304.8:c.12075G>A	ENSP00000262304.4:p.Glu4025=
ENST00000423118.5:c.12072G>A	ENSP00000399501.1:p.Glu4024=
ENST00000472577.1:n.103G>A
NM_000296.3:c.12072G>A	NP_000287.3:p.Glu4024=
NM_001009944.2:c.12075G>A	NP_001009944.2:p.Glu4025=
XM_005255370.2:c.9030G>A	XP_005255427.1:p.Glu3010=
XM_011522525.1:c.12153G>A	XP_011520827.1:p.Glu4051=
XM_011522526.1:c.12150G>A	XP_011520828.1:p.Glu4050=
XM_011522527.1:c.12135G>A	XP_011520829.1:p.Glu4045=
XM_011522528.1:c.12129G>A	XP_011520830.1:p.Glu4043=
XM_011522529.1:c.12126G>A	XP_011520831.1:p.Glu4042=
XM_011522530.1:c.12099G>A	XP_011520832.1:p.Glu4033=
XM_011522531.1:c.12081G>A	XP_011520833.1:p.Glu4027=
XM_011522532.1:c.12027G>A	XP_011520834.1:p.Glu4009=
XM_011522533.1:c.11946G>A	XP_011520835.1:p.Glu3982=
XM_011522534.1:c.11889G>A	XP_011520836.1:p.Glu3963=
XM_011522535.1:c.9975G>A	XP_011520837.1:p.Glu3325=
XM_011522537.1:c.9153G>A	XP_011520839.1:p.Glu3051=
XR_932867.1:n.11993G>A
XM_005255370.3:c.9030G>A	XP_005255427.1:p.Glu3010=
XM_011522528.3:c.12129G>A	XP_011520830.1:p.Glu4043=
XM_011522529.2:c.12126G>A	XP_011520831.1:p.Glu4042=
XM_011522537.2:c.9153G>A	XP_011520839.1:p.Glu3051=
XM_024450298.1:c.12195G>A	XP_024306066.1:p.Glu4065=
XM_024450299.1:c.12123G>A	XP_024306067.1:p.Glu4041=
XM_024450300.1:c.11985G>A	XP_024306068.1:p.Glu3995=
XM_024450301.1:c.10071G>A	XP_024306069.1:p.Glu3357=
NM_000296.4:c.12072G>A	NP_000287.4:p.Glu4024=
NM_001009944.3:c.12075G>A MANE Select	NP_001009944.3:p.Glu4025=