Canonical Allele Identifier: CA2202035049

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106573C= , CM000678.2:g.2106573C=	GRCh38
NC_000016.9:g.2156574C= , CM000678.1:g.2156574C=	GRCh37
NC_000016.8:g.2096575C=	NCBI36
NG_008617.1:g.34326G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7314G= MANE Select	ENSP00000262304.4:p.Leu2438=
ENST00000262304.8:c.7314G=	ENSP00000262304.4:p.Leu2438=
ENST00000415938.7:n.559G=
ENST00000423118.5:c.7314G=	ENSP00000399501.1:p.Leu2438=
ENST00000483558.5:n.373G=
ENST00000483731.5:n.1039G=
ENST00000486339.6:n.1060G=
ENST00000487932.5:c.2001G=	ENSP00000457132.1:p.Leu667=
ENST00000496574.6:n.1317G=
ENST00000565639.6:n.1022G=
ENST00000568591.5:c.2475G=	ENSP00000457162.1:n.2475G=
ENST00000569983.5:n.670G=
NM_000296.3:c.7314G=	NP_000287.3:p.Leu2438=
NM_001009944.2:c.7314G=	NP_001009944.2:p.Leu2438=
XM_005255370.2:c.4269G=	XP_005255427.1:p.Leu1423=
XM_011522525.1:c.7392G=	XP_011520827.1:p.Leu2464=
XM_011522526.1:c.7392G=	XP_011520828.1:p.Leu2464=
XM_011522527.1:c.7392G=	XP_011520829.1:p.Leu2464=
XM_011522528.1:c.7368G=	XP_011520830.1:p.Leu2456=
XM_011522529.1:c.7368G=	XP_011520831.1:p.Leu2456=
XM_011522530.1:c.7338G=	XP_011520832.1:p.Leu2446=
XM_011522531.1:c.7320G=	XP_011520833.1:p.Leu2440=
XM_011522532.1:c.7266G=	XP_011520834.1:p.Leu2422=
XM_011522533.1:c.7185G=	XP_011520835.1:p.Leu2395=
XM_011522534.1:c.7128G=	XP_011520836.1:p.Leu2376=
XM_011522535.1:c.5214G=	XP_011520837.1:p.Leu1738=
XM_011522536.1:c.7392G=	XP_011520838.1:p.Leu2464=
XM_011522537.1:c.4392G=	XP_011520839.1:p.Leu1464=
XR_932867.1:n.7407G=
XR_932868.1:n.7407G=
XR_932869.1:n.7407G=
XR_932870.1:n.7407G=
XM_005255370.3:c.4269G=	XP_005255427.1:p.Leu1423=
XM_011522528.3:c.7368G=	XP_011520830.1:p.Leu2456=
XM_011522529.2:c.7368G=	XP_011520831.1:p.Leu2456=
XM_011522537.2:c.4392G=	XP_011520839.1:p.Leu1464=
XM_024450298.1:c.7434G=	XP_024306066.1:p.Leu2478=
XM_024450299.1:c.7362G=	XP_024306067.1:p.Leu2454=
XM_024450300.1:c.7224G=	XP_024306068.1:p.Leu2408=
XM_024450301.1:c.5310G=	XP_024306069.1:p.Leu1770=
NM_000296.4:c.7314G=	NP_000287.4:p.Leu2438=
NM_001009944.3:c.7314G= MANE Select	NP_001009944.3:p.Leu2438=