Canonical Allele Identifier: CA394393654

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2118018T>C , CM000678.2:g.2118018T>C	GRCh38
NC_000016.9:g.2168019T>C , CM000678.1:g.2168019T>C	GRCh37
NC_000016.8:g.2108020T>C	NCBI36
NG_008617.1:g.22881A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.974A>G MANE Select	NP_001009944.3:p.Tyr325Cys
ENST00000262304.9:c.974A>G MANE Select	ENSP00000262304.4:p.Tyr325Cys
NM_000296.3:c.974A>G	NP_000287.3:p.Tyr325Cys
NM_000296.4:c.974A>G	NP_000287.4:p.Tyr325Cys
NM_001009944.2:c.974A>G	NP_001009944.2:p.Tyr325Cys
ENST00000262304.8:c.974A>G	ENSP00000262304.4:p.Tyr325Cys
ENST00000423118.5:c.974A>G	ENSP00000399501.1:p.Tyr325Cys
ENST00000488185.2:c.61A>G
ENST00000570150.1:n.107A>G
XM_011522525.1:c.1028A>G	XP_011520827.1:p.Tyr343Cys
XM_011522526.1:c.1028A>G	XP_011520828.1:p.Tyr343Cys
XM_011522527.1:c.1028A>G	XP_011520829.1:p.Tyr343Cys
XM_011522528.1:c.1028A>G	XP_011520830.1:p.Tyr343Cys
XM_011522528.3:c.1028A>G	XP_011520830.1:p.Tyr343Cys
XM_011522529.1:c.1028A>G	XP_011520831.1:p.Tyr343Cys
XM_011522529.2:c.1028A>G	XP_011520831.1:p.Tyr343Cys
XM_011522530.1:c.974A>G	XP_011520832.1:p.Tyr325Cys
XM_011522531.1:c.956A>G	XP_011520833.1:p.Tyr319Cys
XM_011522532.1:c.902A>G	XP_011520834.1:p.Tyr301Cys
XM_011522533.1:c.821A>G	XP_011520835.1:p.Tyr274Cys
XM_011522534.1:c.764A>G	XP_011520836.1:p.Tyr255Cys
XM_011522536.1:c.1028A>G	XP_011520838.1:p.Tyr343Cys
XM_024450298.1:c.974A>G	XP_024306066.1:p.Tyr325Cys
XM_024450299.1:c.902A>G	XP_024306067.1:p.Tyr301Cys
XM_024450300.1:c.764A>G	XP_024306068.1:p.Tyr255Cys
XR_932867.1:n.1043A>G
XR_932868.1:n.1043A>G
XR_932869.1:n.1043A>G
XR_932870.1:n.1043A>G