Canonical Allele Identifier: CA2202041845

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090468A= , CM000678.2:g.2090468A=	GRCh38
NC_000016.9:g.2140469A= , CM000678.1:g.2140469A=	GRCh37
NC_000016.8:g.2080470A=	NCBI36
NG_005895.1:g.46163A= , LRG_487:g.46163A=
NG_008617.1:g.52753T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.12261T= MANE Select	NP_001009944.3:p.Cys4087=
ENST00000262304.9:c.12261T= MANE Select	ENSP00000262304.4:p.Cys4087=
NM_000296.3:c.12258T=	NP_000287.3:p.Cys4086=
NM_000296.4:c.12258T=	NP_000287.4:p.Cys4086=
NM_001009944.2:c.12261T=	NP_001009944.2:p.Cys4087=
ENST00000262304.8:c.12261T=	ENSP00000262304.4:p.Cys4087=
ENST00000423118.5:c.12258T=	ENSP00000399501.1:p.Cys4086=
ENST00000472577.1:n.289T=
XM_005255370.2:c.9216T=	XP_005255427.1:p.Cys3072=
XM_005255370.3:c.9216T=	XP_005255427.1:p.Cys3072=
XM_011522525.1:c.12339T=	XP_011520827.1:p.Cys4113=
XM_011522526.1:c.12336T=	XP_011520828.1:p.Cys4112=
XM_011522527.1:c.12321T=	XP_011520829.1:p.Cys4107=
XM_011522528.1:c.12315T=	XP_011520830.1:p.Cys4105=
XM_011522528.3:c.12315T=	XP_011520830.1:p.Cys4105=
XM_011522529.1:c.12312T=	XP_011520831.1:p.Cys4104=
XM_011522529.2:c.12312T=	XP_011520831.1:p.Cys4104=
XM_011522530.1:c.12285T=	XP_011520832.1:p.Cys4095=
XM_011522531.1:c.12267T=	XP_011520833.1:p.Cys4089=
XM_011522532.1:c.12213T=	XP_011520834.1:p.Cys4071=
XM_011522533.1:c.12132T=	XP_011520835.1:p.Cys4044=
XM_011522534.1:c.12075T=	XP_011520836.1:p.Cys4025=
XM_011522535.1:c.10161T=	XP_011520837.1:p.Cys3387=
XM_011522537.1:c.9339T=	XP_011520839.1:p.Cys3113=
XM_011522537.2:c.9339T=	XP_011520839.1:p.Cys3113=
XM_024450298.1:c.12381T=	XP_024306066.1:p.Cys4127=
XM_024450299.1:c.12309T=	XP_024306067.1:p.Cys4103=
XM_024450300.1:c.12171T=	XP_024306068.1:p.Cys4057=
XM_024450301.1:c.10257T=	XP_024306069.1:p.Cys3419=
XR_932867.1:n.12179T=