Canonical Allele Identifier: CA7830135

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2102128A>G , CM000678.2:g.2102128A>G	GRCh38
NC_000016.9:g.2152129A>G , CM000678.1:g.2152129A>G	GRCh37
NC_000016.8:g.2092130A>G	NCBI36
NG_008617.1:g.41093T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.9330T>C MANE Select	NP_001009944.3:p.Pro3110=
ENST00000262304.9:c.9330T>C MANE Select	ENSP00000262304.4:p.Pro3110=
NM_000296.3:c.9330T>C	NP_000287.3:p.Pro3110=
NM_000296.4:c.9330T>C	NP_000287.4:p.Pro3110=
NM_001009944.2:c.9330T>C	NP_001009944.2:p.Pro3110=
ENST00000262304.8:c.9330T>C	ENSP00000262304.4:p.Pro3110=
ENST00000415938.7:n.2409T>C
ENST00000423118.5:c.9330T>C	ENSP00000399501.1:p.Pro3110=
ENST00000471603.6:n.974T>C
ENST00000474088.1:n.746T>C
ENST00000480227.5:n.1067T>C
ENST00000483731.5:n.3216T>C
ENST00000486339.6:n.3466T>C
ENST00000487932.5:c.3892T>C	ENSP00000457132.1:n.3892T>C
ENST00000496574.6:n.3566T>C
ENST00000562297.5:n.1063T>C
ENST00000567946.1:c.932T>C
XM_005255370.2:c.6285T>C	XP_005255427.1:p.Pro2095=
XM_005255370.3:c.6285T>C	XP_005255427.1:p.Pro2095=
XM_011522525.1:c.9408T>C	XP_011520827.1:p.Pro3136=
XM_011522526.1:c.9408T>C	XP_011520828.1:p.Pro3136=
XM_011522527.1:c.9390T>C	XP_011520829.1:p.Pro3130=
XM_011522528.1:c.9384T>C	XP_011520830.1:p.Pro3128=
XM_011522528.3:c.9384T>C	XP_011520830.1:p.Pro3128=
XM_011522529.1:c.9384T>C	XP_011520831.1:p.Pro3128=
XM_011522529.2:c.9384T>C	XP_011520831.1:p.Pro3128=
XM_011522530.1:c.9354T>C	XP_011520832.1:p.Pro3118=
XM_011522531.1:c.9336T>C	XP_011520833.1:p.Pro3112=
XM_011522532.1:c.9282T>C	XP_011520834.1:p.Pro3094=
XM_011522533.1:c.9201T>C	XP_011520835.1:p.Pro3067=
XM_011522534.1:c.9144T>C	XP_011520836.1:p.Pro3048=
XM_011522535.1:c.7230T>C	XP_011520837.1:p.Pro2410=
XM_011522536.1:c.9408T>C	XP_011520838.1:p.Pro3136=
XM_011522537.1:c.6408T>C	XP_011520839.1:p.Pro2136=
XM_011522537.2:c.6408T>C	XP_011520839.1:p.Pro2136=
XM_024450298.1:c.9450T>C	XP_024306066.1:p.Pro3150=
XM_024450299.1:c.9378T>C	XP_024306067.1:p.Pro3126=
XM_024450300.1:c.9240T>C	XP_024306068.1:p.Pro3080=
XM_024450301.1:c.7326T>C	XP_024306069.1:p.Pro2442=
XR_932867.1:n.9423T>C
XR_932868.1:n.9423T>C
XR_932869.1:n.9423T>C
XR_932870.1:n.9423T>C