Canonical Allele Identifier: CA2202041697

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090415A= , CM000678.2:g.2090415A=	GRCh38
NC_000016.9:g.2140416A= , CM000678.1:g.2140416A=	GRCh37
NC_000016.8:g.2080417A=	NCBI36
NG_005895.1:g.46110A= , LRG_487:g.46110A=
NG_008617.1:g.52806T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12314T= MANE Select	ENSP00000262304.4:p.Ile4105=
ENST00000262304.8:c.12314T=	ENSP00000262304.4:p.Ile4105=
ENST00000423118.5:c.12311T=	ENSP00000399501.1:p.Ile4104=
ENST00000472577.1:n.342T=
NM_000296.3:c.12311T=	NP_000287.3:p.Ile4104=
NM_001009944.2:c.12314T=	NP_001009944.2:p.Ile4105=
XM_005255370.2:c.9269T=	XP_005255427.1:p.Ile3090=
XM_011522525.1:c.12392T=	XP_011520827.1:p.Ile4131=
XM_011522526.1:c.12389T=	XP_011520828.1:p.Ile4130=
XM_011522527.1:c.12374T=	XP_011520829.1:p.Ile4125=
XM_011522528.1:c.12368T=	XP_011520830.1:p.Ile4123=
XM_011522529.1:c.12365T=	XP_011520831.1:p.Ile4122=
XM_011522530.1:c.12338T=	XP_011520832.1:p.Ile4113=
XM_011522531.1:c.12320T=	XP_011520833.1:p.Ile4107=
XM_011522532.1:c.12266T=	XP_011520834.1:p.Ile4089=
XM_011522533.1:c.12185T=	XP_011520835.1:p.Ile4062=
XM_011522534.1:c.12128T=	XP_011520836.1:p.Ile4043=
XM_011522535.1:c.10214T=	XP_011520837.1:p.Ile3405=
XM_011522537.1:c.9392T=	XP_011520839.1:p.Ile3131=
XR_932867.1:n.12232T=
XM_005255370.3:c.9269T=	XP_005255427.1:p.Ile3090=
XM_011522528.3:c.12368T=	XP_011520830.1:p.Ile4123=
XM_011522529.2:c.12365T=	XP_011520831.1:p.Ile4122=
XM_011522537.2:c.9392T=	XP_011520839.1:p.Ile3131=
XM_024450298.1:c.12434T=	XP_024306066.1:p.Ile4145=
XM_024450299.1:c.12362T=	XP_024306067.1:p.Ile4121=
XM_024450300.1:c.12224T=	XP_024306068.1:p.Ile4075=
XM_024450301.1:c.10310T=	XP_024306069.1:p.Ile3437=
NM_000296.4:c.12311T=	NP_000287.4:p.Ile4104=
NM_001009944.3:c.12314T= MANE Select	NP_001009944.3:p.Ile4105=