Canonical Allele Identifier: CA7828574

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090153G>T , CM000678.2:g.2090153G>T	GRCh38
NC_000016.9:g.2140154G>T , CM000678.1:g.2140154G>T	GRCh37
NC_000016.8:g.2080155G>T	NCBI36
NG_005895.1:g.45848G>T , LRG_487:g.45848G>T
NG_008617.1:g.53068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12486C>A MANE Select	ENSP00000262304.4:p.Pro4162=
ENST00000262304.8:c.12486C>A	ENSP00000262304.4:p.Pro4162=
ENST00000423118.5:c.12483C>A	ENSP00000399501.1:p.Pro4161=
ENST00000472577.1:n.514C>A
NM_000296.3:c.12483C>A	NP_000287.3:p.Pro4161=
NM_001009944.2:c.12486C>A	NP_001009944.2:p.Pro4162=
XM_005255370.2:c.9441C>A	XP_005255427.1:p.Pro3147=
XM_011522525.1:c.12564C>A	XP_011520827.1:p.Pro4188=
XM_011522526.1:c.12561C>A	XP_011520828.1:p.Pro4187=
XM_011522527.1:c.12546C>A	XP_011520829.1:p.Pro4182=
XM_011522528.1:c.12540C>A	XP_011520830.1:p.Pro4180=
XM_011522529.1:c.12537C>A	XP_011520831.1:p.Pro4179=
XM_011522530.1:c.12510C>A	XP_011520832.1:p.Pro4170=
XM_011522531.1:c.12492C>A	XP_011520833.1:p.Pro4164=
XM_011522532.1:c.12438C>A	XP_011520834.1:p.Pro4146=
XM_011522533.1:c.12357C>A	XP_011520835.1:p.Pro4119=
XM_011522534.1:c.12300C>A	XP_011520836.1:p.Pro4100=
XM_011522535.1:c.10386C>A	XP_011520837.1:p.Pro3462=
XM_011522537.1:c.9564C>A	XP_011520839.1:p.Pro3188=
XR_932867.1:n.12404C>A
XM_005255370.3:c.9441C>A	XP_005255427.1:p.Pro3147=
XM_011522528.3:c.12540C>A	XP_011520830.1:p.Pro4180=
XM_011522529.2:c.12537C>A	XP_011520831.1:p.Pro4179=
XM_011522537.2:c.9564C>A	XP_011520839.1:p.Pro3188=
XM_024450298.1:c.12606C>A	XP_024306066.1:p.Pro4202=
XM_024450299.1:c.12534C>A	XP_024306067.1:p.Pro4178=
XM_024450300.1:c.12396C>A	XP_024306068.1:p.Pro4132=
XM_024450301.1:c.10482C>A	XP_024306069.1:p.Pro3494=
NM_000296.4:c.12483C>A	NP_000287.4:p.Pro4161=
NM_001009944.3:c.12486C>A MANE Select	NP_001009944.3:p.Pro4162=