Canonical Allele Identifier: CA394318759

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089734C>T , CM000678.2:g.2089734C>T	GRCh38
NC_000016.9:g.2139735C>T , CM000678.1:g.2139735C>T	GRCh37
NC_000016.8:g.2079736C>T	NCBI36
NG_005895.1:g.45429C>T , LRG_487:g.45429C>T
NG_008617.1:g.53487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12905G>A MANE Select	ENSP00000262304.4:p.Ser4302Asn
ENST00000262304.8:c.12905G>A	ENSP00000262304.4:p.Ser4302Asn
ENST00000423118.5:c.12902G>A	ENSP00000399501.1:p.Ser4301Asn
ENST00000472577.1:n.933G>A
NM_000296.3:c.12902G>A	NP_000287.3:p.Ser4301Asn
NM_001009944.2:c.12905G>A	NP_001009944.2:p.Ser4302Asn
XM_005255370.2:c.9860G>A	XP_005255427.1:p.Ser3287Asn
XM_011522525.1:c.12983G>A	XP_011520827.1:p.Ser4328Asn
XM_011522526.1:c.12980G>A	XP_011520828.1:p.Ser4327Asn
XM_011522527.1:c.12965G>A	XP_011520829.1:p.Ser4322Asn
XM_011522528.1:c.12959G>A	XP_011520830.1:p.Ser4320Asn
XM_011522529.1:c.12956G>A	XP_011520831.1:p.Ser4319Asn
XM_011522530.1:c.12929G>A	XP_011520832.1:p.Ser4310Asn
XM_011522531.1:c.12911G>A	XP_011520833.1:p.Ser4304Asn
XM_011522532.1:c.12857G>A	XP_011520834.1:p.Ser4286Asn
XM_011522533.1:c.12776G>A	XP_011520835.1:p.Ser4259Asn
XM_011522534.1:c.12719G>A	XP_011520836.1:p.Ser4240Asn
XM_011522535.1:c.10805G>A	XP_011520837.1:p.Ser3602Asn
XM_011522537.1:c.9983G>A	XP_011520839.1:p.Ser3328Asn
XM_005255370.3:c.9860G>A	XP_005255427.1:p.Ser3287Asn
XM_011522528.3:c.12959G>A	XP_011520830.1:p.Ser4320Asn
XM_011522529.2:c.12956G>A	XP_011520831.1:p.Ser4319Asn
XM_011522537.2:c.9983G>A	XP_011520839.1:p.Ser3328Asn
XM_024450298.1:c.13025G>A	XP_024306066.1:p.Ser4342Asn
XM_024450299.1:c.12953G>A	XP_024306067.1:p.Ser4318Asn
XM_024450300.1:c.12815G>A	XP_024306068.1:p.Ser4272Asn
XM_024450301.1:c.10901G>A	XP_024306069.1:p.Ser3634Asn
NM_000296.4:c.12902G>A	NP_000287.4:p.Ser4301Asn
NM_001009944.3:c.12905G>A MANE Select	NP_001009944.3:p.Ser4302Asn