Canonical Allele Identifier: CA394352966

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2099890C>T , CM000678.2:g.2099890C>T	GRCh38
NC_000016.9:g.2149891C>T , CM000678.1:g.2149891C>T	GRCh37
NC_000016.8:g.2089892C>T	NCBI36
NG_008617.1:g.43331G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.9894G>A MANE Select	NP_001009944.3:p.Trp3298Ter
ENST00000262304.9:c.9894G>A MANE Select	ENSP00000262304.4:p.Trp3298Ter
NM_000296.3:c.9894G>A	NP_000287.3:p.Trp3298Ter
NM_000296.4:c.9894G>A	NP_000287.4:p.Trp3298Ter
NM_001009944.2:c.9894G>A	NP_001009944.2:p.Trp3298Ter
ENST00000262304.8:c.9894G>A	ENSP00000262304.4:p.Trp3298Ter
ENST00000415938.7:n.2973G>A
ENST00000423118.5:c.9894G>A	ENSP00000399501.1:p.Trp3298Ter
ENST00000471603.6:n.1538G>A
ENST00000480227.5:n.1631G>A
ENST00000483731.5:n.3780G>A
ENST00000486339.6:n.4030G>A
ENST00000487932.5:c.4456G>A	ENSP00000457132.1:n.4456G>A
ENST00000496574.6:n.4130G>A
ENST00000562297.5:n.1627G>A
ENST00000566784.5:n.4G>A
ENST00000566905.5:n.384G>A
ENST00000567946.1:c.1496G>A
ENST00000570193.5:n.338G>A
ENST00000570253.5:n.317G>A
XM_005255370.2:c.6849G>A	XP_005255427.1:p.Trp2283Ter
XM_005255370.3:c.6849G>A	XP_005255427.1:p.Trp2283Ter
XM_011522525.1:c.9972G>A	XP_011520827.1:p.Trp3324Ter
XM_011522526.1:c.9972G>A	XP_011520828.1:p.Trp3324Ter
XM_011522527.1:c.9954G>A	XP_011520829.1:p.Trp3318Ter
XM_011522528.1:c.9948G>A	XP_011520830.1:p.Trp3316Ter
XM_011522528.3:c.9948G>A	XP_011520830.1:p.Trp3316Ter
XM_011522529.1:c.9948G>A	XP_011520831.1:p.Trp3316Ter
XM_011522529.2:c.9948G>A	XP_011520831.1:p.Trp3316Ter
XM_011522530.1:c.9918G>A	XP_011520832.1:p.Trp3306Ter
XM_011522531.1:c.9900G>A	XP_011520833.1:p.Trp3300Ter
XM_011522532.1:c.9846G>A	XP_011520834.1:p.Trp3282Ter
XM_011522533.1:c.9765G>A	XP_011520835.1:p.Trp3255Ter
XM_011522534.1:c.9708G>A	XP_011520836.1:p.Trp3236Ter
XM_011522535.1:c.7794G>A	XP_011520837.1:p.Trp2598Ter
XM_011522536.1:c.9972G>A	XP_011520838.1:p.Trp3324Ter
XM_011522537.1:c.6972G>A	XP_011520839.1:p.Trp2324Ter
XM_011522537.2:c.6972G>A	XP_011520839.1:p.Trp2324Ter
XM_024450298.1:c.10014G>A	XP_024306066.1:p.Trp3338Ter
XM_024450299.1:c.9942G>A	XP_024306067.1:p.Trp3314Ter
XM_024450300.1:c.9804G>A	XP_024306068.1:p.Trp3268Ter
XM_024450301.1:c.7890G>A	XP_024306069.1:p.Trp2630Ter
XR_932867.1:n.9987G>A
XR_932868.1:n.9987G>A
XR_932869.1:n.9987G>A
XR_932870.1:n.9987G>A