Canonical Allele Identifier: CA7828515

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2089996G>A , CM000678.2:g.2089996G>A	GRCh38
NC_000016.9:g.2139997G>A , CM000678.1:g.2139997G>A	GRCh37
NC_000016.8:g.2079998G>A	NCBI36
NG_005895.1:g.45691G>A , LRG_487:g.45691G>A
NG_008617.1:g.53225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12643C>T MANE Select	ENSP00000262304.4:p.Leu4215Phe
ENST00000262304.8:c.12643C>T	ENSP00000262304.4:p.Leu4215Phe
ENST00000423118.5:c.12640C>T	ENSP00000399501.1:p.Leu4214Phe
ENST00000472577.1:n.671C>T
NM_000296.3:c.12640C>T	NP_000287.3:p.Leu4214Phe
NM_001009944.2:c.12643C>T	NP_001009944.2:p.Leu4215Phe
XM_005255370.2:c.9598C>T	XP_005255427.1:p.Leu3200Phe
XM_011522525.1:c.12721C>T	XP_011520827.1:p.Leu4241Phe
XM_011522526.1:c.12718C>T	XP_011520828.1:p.Leu4240Phe
XM_011522527.1:c.12703C>T	XP_011520829.1:p.Leu4235Phe
XM_011522528.1:c.12697C>T	XP_011520830.1:p.Leu4233Phe
XM_011522529.1:c.12694C>T	XP_011520831.1:p.Leu4232Phe
XM_011522530.1:c.12667C>T	XP_011520832.1:p.Leu4223Phe
XM_011522531.1:c.12649C>T	XP_011520833.1:p.Leu4217Phe
XM_011522532.1:c.12595C>T	XP_011520834.1:p.Leu4199Phe
XM_011522533.1:c.12514C>T	XP_011520835.1:p.Leu4172Phe
XM_011522534.1:c.12457C>T	XP_011520836.1:p.Leu4153Phe
XM_011522535.1:c.10543C>T	XP_011520837.1:p.Leu3515Phe
XM_011522537.1:c.9721C>T	XP_011520839.1:p.Leu3241Phe
XR_932867.1:n.12561C>T
XM_005255370.3:c.9598C>T	XP_005255427.1:p.Leu3200Phe
XM_011522528.3:c.12697C>T	XP_011520830.1:p.Leu4233Phe
XM_011522529.2:c.12694C>T	XP_011520831.1:p.Leu4232Phe
XM_011522537.2:c.9721C>T	XP_011520839.1:p.Leu3241Phe
XM_024450298.1:c.12763C>T	XP_024306066.1:p.Leu4255Phe
XM_024450299.1:c.12691C>T	XP_024306067.1:p.Leu4231Phe
XM_024450300.1:c.12553C>T	XP_024306068.1:p.Leu4185Phe
XM_024450301.1:c.10639C>T	XP_024306069.1:p.Leu3547Phe
NM_000296.4:c.12640C>T	NP_000287.4:p.Leu4214Phe
NM_001009944.3:c.12643C>T MANE Select	NP_001009944.3:p.Leu4215Phe