Canonical Allele Identifier: CA2202034883

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106541G= , CM000678.2:g.2106541G=	GRCh38
NC_000016.9:g.2156542G= , CM000678.1:g.2156542G=	GRCh37
NC_000016.8:g.2096543G=	NCBI36
NG_008617.1:g.34358C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7346C= MANE Select	ENSP00000262304.4:p.Thr2449=
ENST00000262304.8:c.7346C=	ENSP00000262304.4:p.Thr2449=
ENST00000415938.7:n.591C=
ENST00000423118.5:c.7346C=	ENSP00000399501.1:p.Thr2449=
ENST00000483558.5:n.405C=
ENST00000483731.5:n.1071C=
ENST00000486339.6:n.1092C=
ENST00000487932.5:c.2033C=	ENSP00000457132.1:p.Thr678=
ENST00000496574.6:n.1349C=
ENST00000565639.6:n.1054C=
ENST00000568591.5:c.2507C=	ENSP00000457162.1:n.2507C=
ENST00000569983.5:n.702C=
NM_000296.3:c.7346C=	NP_000287.3:p.Thr2449=
NM_001009944.2:c.7346C=	NP_001009944.2:p.Thr2449=
XM_005255370.2:c.4301C=	XP_005255427.1:p.Thr1434=
XM_011522525.1:c.7424C=	XP_011520827.1:p.Thr2475=
XM_011522526.1:c.7424C=	XP_011520828.1:p.Thr2475=
XM_011522527.1:c.7424C=	XP_011520829.1:p.Thr2475=
XM_011522528.1:c.7400C=	XP_011520830.1:p.Thr2467=
XM_011522529.1:c.7400C=	XP_011520831.1:p.Thr2467=
XM_011522530.1:c.7370C=	XP_011520832.1:p.Thr2457=
XM_011522531.1:c.7352C=	XP_011520833.1:p.Thr2451=
XM_011522532.1:c.7298C=	XP_011520834.1:p.Thr2433=
XM_011522533.1:c.7217C=	XP_011520835.1:p.Thr2406=
XM_011522534.1:c.7160C=	XP_011520836.1:p.Thr2387=
XM_011522535.1:c.5246C=	XP_011520837.1:p.Thr1749=
XM_011522536.1:c.7424C=	XP_011520838.1:p.Thr2475=
XM_011522537.1:c.4424C=	XP_011520839.1:p.Thr1475=
XR_932867.1:n.7439C=
XR_932868.1:n.7439C=
XR_932869.1:n.7439C=
XR_932870.1:n.7439C=
XM_005255370.3:c.4301C=	XP_005255427.1:p.Thr1434=
XM_011522528.3:c.7400C=	XP_011520830.1:p.Thr2467=
XM_011522529.2:c.7400C=	XP_011520831.1:p.Thr2467=
XM_011522537.2:c.4424C=	XP_011520839.1:p.Thr1475=
XM_024450298.1:c.7466C=	XP_024306066.1:p.Thr2489=
XM_024450299.1:c.7394C=	XP_024306067.1:p.Thr2465=
XM_024450300.1:c.7256C=	XP_024306068.1:p.Thr2419=
XM_024450301.1:c.5342C=	XP_024306069.1:p.Thr1781=
NM_000296.4:c.7346C=	NP_000287.4:p.Thr2449=
NM_001009944.3:c.7346C= MANE Select	NP_001009944.3:p.Thr2449=