Canonical Allele Identifier: CA2202035556

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106648C= , CM000678.2:g.2106648C=	GRCh38
NC_000016.9:g.2156649C= , CM000678.1:g.2156649C=	GRCh37
NC_000016.8:g.2096650C=	NCBI36
NG_008617.1:g.34251G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7239G= MANE Select	ENSP00000262304.4:p.Lys2413=
ENST00000262304.8:c.7239G=	ENSP00000262304.4:p.Lys2413=
ENST00000415938.7:n.484G=
ENST00000423118.5:c.7239G=	ENSP00000399501.1:p.Lys2413=
ENST00000483024.1:c.407G=
ENST00000483558.5:n.298G=
ENST00000483731.5:n.964G=
ENST00000486339.6:n.985G=
ENST00000487932.5:c.1926G=	ENSP00000457132.1:p.Lys642=
ENST00000496574.6:n.1242G=
ENST00000565639.6:n.947G=
ENST00000568591.5:c.2400G=	ENSP00000457162.1:n.2400G=
ENST00000569983.5:n.595G=
NM_000296.3:c.7239G=	NP_000287.3:p.Lys2413=
NM_001009944.2:c.7239G=	NP_001009944.2:p.Lys2413=
XM_005255370.2:c.4194G=	XP_005255427.1:p.Lys1398=
XM_011522525.1:c.7317G=	XP_011520827.1:p.Lys2439=
XM_011522526.1:c.7317G=	XP_011520828.1:p.Lys2439=
XM_011522527.1:c.7317G=	XP_011520829.1:p.Lys2439=
XM_011522528.1:c.7293G=	XP_011520830.1:p.Lys2431=
XM_011522529.1:c.7293G=	XP_011520831.1:p.Lys2431=
XM_011522530.1:c.7263G=	XP_011520832.1:p.Lys2421=
XM_011522531.1:c.7245G=	XP_011520833.1:p.Lys2415=
XM_011522532.1:c.7191G=	XP_011520834.1:p.Lys2397=
XM_011522533.1:c.7110G=	XP_011520835.1:p.Lys2370=
XM_011522534.1:c.7053G=	XP_011520836.1:p.Lys2351=
XM_011522535.1:c.5139G=	XP_011520837.1:p.Lys1713=
XM_011522536.1:c.7317G=	XP_011520838.1:p.Lys2439=
XM_011522537.1:c.4317G=	XP_011520839.1:p.Lys1439=
XR_932867.1:n.7332G=
XR_932868.1:n.7332G=
XR_932869.1:n.7332G=
XR_932870.1:n.7332G=
XM_005255370.3:c.4194G=	XP_005255427.1:p.Lys1398=
XM_011522528.3:c.7293G=	XP_011520830.1:p.Lys2431=
XM_011522529.2:c.7293G=	XP_011520831.1:p.Lys2431=
XM_011522537.2:c.4317G=	XP_011520839.1:p.Lys1439=
XM_024450298.1:c.7359G=	XP_024306066.1:p.Lys2453=
XM_024450299.1:c.7287G=	XP_024306067.1:p.Lys2429=
XM_024450300.1:c.7149G=	XP_024306068.1:p.Lys2383=
XM_024450301.1:c.5235G=	XP_024306069.1:p.Lys1745=
NM_000296.4:c.7239G=	NP_000287.4:p.Lys2413=
NM_001009944.3:c.7239G= MANE Select	NP_001009944.3:p.Lys2413=