Canonical Allele Identifier: CA7829588

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097221C>T , CM000678.2:g.2097221C>T	GRCh38
NC_000016.9:g.2147222C>T , CM000678.1:g.2147222C>T	GRCh37
NC_000016.8:g.2087223C>T	NCBI36
NG_008617.1:g.46000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10426G>A MANE Select	ENSP00000262304.4:p.Val3476Ile
ENST00000262304.8:c.10426G>A	ENSP00000262304.4:p.Val3476Ile
ENST00000423118.5:c.10423G>A	ENSP00000399501.1:p.Val3475Ile
ENST00000487932.5:c.4988G>A	ENSP00000457132.1:n.4988G>A
NM_000296.3:c.10423G>A	NP_000287.3:p.Val3475Ile
NM_001009944.2:c.10426G>A	NP_001009944.2:p.Val3476Ile
XM_005255370.2:c.7381G>A	XP_005255427.1:p.Val2461Ile
XM_011522525.1:c.10504G>A	XP_011520827.1:p.Val3502Ile
XM_011522526.1:c.10501G>A	XP_011520828.1:p.Val3501Ile
XM_011522527.1:c.10486G>A	XP_011520829.1:p.Val3496Ile
XM_011522528.1:c.10480G>A	XP_011520830.1:p.Val3494Ile
XM_011522529.1:c.10477G>A	XP_011520831.1:p.Val3493Ile
XM_011522530.1:c.10450G>A	XP_011520832.1:p.Val3484Ile
XM_011522531.1:c.10432G>A	XP_011520833.1:p.Val3478Ile
XM_011522532.1:c.10378G>A	XP_011520834.1:p.Val3460Ile
XM_011522533.1:c.10297G>A	XP_011520835.1:p.Val3433Ile
XM_011522534.1:c.10240G>A	XP_011520836.1:p.Val3414Ile
XM_011522535.1:c.8326G>A	XP_011520837.1:p.Val2776Ile
XM_011522537.1:c.7504G>A	XP_011520839.1:p.Val2502Ile
XR_932867.1:n.10519G>A
XR_932868.1:n.10519G>A
XR_932869.1:n.10519G>A
XR_932870.1:n.10519G>A
XM_005255370.3:c.7381G>A	XP_005255427.1:p.Val2461Ile
XM_011522528.3:c.10480G>A	XP_011520830.1:p.Val3494Ile
XM_011522529.2:c.10477G>A	XP_011520831.1:p.Val3493Ile
XM_011522537.2:c.7504G>A	XP_011520839.1:p.Val2502Ile
XM_024450298.1:c.10546G>A	XP_024306066.1:p.Val3516Ile
XM_024450299.1:c.10474G>A	XP_024306067.1:p.Val3492Ile
XM_024450300.1:c.10336G>A	XP_024306068.1:p.Val3446Ile
XM_024450301.1:c.8422G>A	XP_024306069.1:p.Val2808Ile
NM_000296.4:c.10423G>A	NP_000287.4:p.Val3475Ile
NM_001009944.3:c.10426G>A MANE Select	NP_001009944.3:p.Val3476Ile