Canonical Allele Identifier: CA7829625

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2097327G>A , CM000678.2:g.2097327G>A	GRCh38
NC_000016.9:g.2147328G>A , CM000678.1:g.2147328G>A	GRCh37
NC_000016.8:g.2087329G>A	NCBI36
NG_008617.1:g.45894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10397C>T MANE Select	ENSP00000262304.4:p.Ser3466Leu
ENST00000262304.8:c.10397C>T	ENSP00000262304.4:p.Ser3466Leu
ENST00000423118.5:c.10394C>T	ENSP00000399501.1:p.Ser3465Leu
ENST00000487932.5:c.4959C>T	ENSP00000457132.1:n.4959C>T
NM_000296.3:c.10394C>T	NP_000287.3:p.Ser3465Leu
NM_001009944.2:c.10397C>T	NP_001009944.2:p.Ser3466Leu
XM_005255370.2:c.7352C>T	XP_005255427.1:p.Ser2451Leu
XM_011522525.1:c.10475C>T	XP_011520827.1:p.Ser3492Leu
XM_011522526.1:c.10472C>T	XP_011520828.1:p.Ser3491Leu
XM_011522527.1:c.10457C>T	XP_011520829.1:p.Ser3486Leu
XM_011522528.1:c.10451C>T	XP_011520830.1:p.Ser3484Leu
XM_011522529.1:c.10448C>T	XP_011520831.1:p.Ser3483Leu
XM_011522530.1:c.10421C>T	XP_011520832.1:p.Ser3474Leu
XM_011522531.1:c.10403C>T	XP_011520833.1:p.Ser3468Leu
XM_011522532.1:c.10349C>T	XP_011520834.1:p.Ser3450Leu
XM_011522533.1:c.10268C>T	XP_011520835.1:p.Ser3423Leu
XM_011522534.1:c.10211C>T	XP_011520836.1:p.Ser3404Leu
XM_011522535.1:c.8297C>T	XP_011520837.1:p.Ser2766Leu
XM_011522537.1:c.7475C>T	XP_011520839.1:p.Ser2492Leu
XR_932867.1:n.10490C>T
XR_932868.1:n.10490C>T
XR_932869.1:n.10490C>T
XR_932870.1:n.10490C>T
XM_005255370.3:c.7352C>T	XP_005255427.1:p.Ser2451Leu
XM_011522528.3:c.10451C>T	XP_011520830.1:p.Ser3484Leu
XM_011522529.2:c.10448C>T	XP_011520831.1:p.Ser3483Leu
XM_011522537.2:c.7475C>T	XP_011520839.1:p.Ser2492Leu
XM_024450298.1:c.10517C>T	XP_024306066.1:p.Ser3506Leu
XM_024450299.1:c.10445C>T	XP_024306067.1:p.Ser3482Leu
XM_024450300.1:c.10307C>T	XP_024306068.1:p.Ser3436Leu
XM_024450301.1:c.8393C>T	XP_024306069.1:p.Ser2798Leu
NM_000296.4:c.10394C>T	NP_000287.4:p.Ser3465Leu
NM_001009944.3:c.10397C>T MANE Select	NP_001009944.3:p.Ser3466Leu