Canonical Allele Identifier: CA2202041640

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090396G= , CM000678.2:g.2090396G=	GRCh38
NC_000016.9:g.2140397G= , CM000678.1:g.2140397G=	GRCh37
NC_000016.8:g.2080398G=	NCBI36
NG_005895.1:g.46091G= , LRG_487:g.46091G=
NG_008617.1:g.52825C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12333C= MANE Select	ENSP00000262304.4:p.His4111=
ENST00000262304.8:c.12333C=	ENSP00000262304.4:p.His4111=
ENST00000423118.5:c.12330C=	ENSP00000399501.1:p.His4110=
ENST00000472577.1:n.361C=
NM_000296.3:c.12330C=	NP_000287.3:p.His4110=
NM_001009944.2:c.12333C=	NP_001009944.2:p.His4111=
XM_005255370.2:c.9288C=	XP_005255427.1:p.His3096=
XM_011522525.1:c.12411C=	XP_011520827.1:p.His4137=
XM_011522526.1:c.12408C=	XP_011520828.1:p.His4136=
XM_011522527.1:c.12393C=	XP_011520829.1:p.His4131=
XM_011522528.1:c.12387C=	XP_011520830.1:p.His4129=
XM_011522529.1:c.12384C=	XP_011520831.1:p.His4128=
XM_011522530.1:c.12357C=	XP_011520832.1:p.His4119=
XM_011522531.1:c.12339C=	XP_011520833.1:p.His4113=
XM_011522532.1:c.12285C=	XP_011520834.1:p.His4095=
XM_011522533.1:c.12204C=	XP_011520835.1:p.His4068=
XM_011522534.1:c.12147C=	XP_011520836.1:p.His4049=
XM_011522535.1:c.10233C=	XP_011520837.1:p.His3411=
XM_011522537.1:c.9411C=	XP_011520839.1:p.His3137=
XR_932867.1:n.12251C=
XM_005255370.3:c.9288C=	XP_005255427.1:p.His3096=
XM_011522528.3:c.12387C=	XP_011520830.1:p.His4129=
XM_011522529.2:c.12384C=	XP_011520831.1:p.His4128=
XM_011522537.2:c.9411C=	XP_011520839.1:p.His3137=
XM_024450298.1:c.12453C=	XP_024306066.1:p.His4151=
XM_024450299.1:c.12381C=	XP_024306067.1:p.His4127=
XM_024450300.1:c.12243C=	XP_024306068.1:p.His4081=
XM_024450301.1:c.10329C=	XP_024306069.1:p.His3443=
NM_000296.4:c.12330C=	NP_000287.4:p.His4110=
NM_001009944.3:c.12333C= MANE Select	NP_001009944.3:p.His4111=