Canonical Allele Identifier: CA2202041658

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090401A= , CM000678.2:g.2090401A=	GRCh38
NC_000016.9:g.2140402A= , CM000678.1:g.2140402A=	GRCh37
NC_000016.8:g.2080403A=	NCBI36
NG_005895.1:g.46096A= , LRG_487:g.46096A=
NG_008617.1:g.52820T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12328T= MANE Select	ENSP00000262304.4:p.Tyr4110=
ENST00000262304.8:c.12328T=	ENSP00000262304.4:p.Tyr4110=
ENST00000423118.5:c.12325T=	ENSP00000399501.1:p.Tyr4109=
ENST00000472577.1:n.356T=
NM_000296.3:c.12325T=	NP_000287.3:p.Tyr4109=
NM_001009944.2:c.12328T=	NP_001009944.2:p.Tyr4110=
XM_005255370.2:c.9283T=	XP_005255427.1:p.Tyr3095=
XM_011522525.1:c.12406T=	XP_011520827.1:p.Tyr4136=
XM_011522526.1:c.12403T=	XP_011520828.1:p.Tyr4135=
XM_011522527.1:c.12388T=	XP_011520829.1:p.Tyr4130=
XM_011522528.1:c.12382T=	XP_011520830.1:p.Tyr4128=
XM_011522529.1:c.12379T=	XP_011520831.1:p.Tyr4127=
XM_011522530.1:c.12352T=	XP_011520832.1:p.Tyr4118=
XM_011522531.1:c.12334T=	XP_011520833.1:p.Tyr4112=
XM_011522532.1:c.12280T=	XP_011520834.1:p.Tyr4094=
XM_011522533.1:c.12199T=	XP_011520835.1:p.Tyr4067=
XM_011522534.1:c.12142T=	XP_011520836.1:p.Tyr4048=
XM_011522535.1:c.10228T=	XP_011520837.1:p.Tyr3410=
XM_011522537.1:c.9406T=	XP_011520839.1:p.Tyr3136=
XR_932867.1:n.12246T=
XM_005255370.3:c.9283T=	XP_005255427.1:p.Tyr3095=
XM_011522528.3:c.12382T=	XP_011520830.1:p.Tyr4128=
XM_011522529.2:c.12379T=	XP_011520831.1:p.Tyr4127=
XM_011522537.2:c.9406T=	XP_011520839.1:p.Tyr3136=
XM_024450298.1:c.12448T=	XP_024306066.1:p.Tyr4150=
XM_024450299.1:c.12376T=	XP_024306067.1:p.Tyr4126=
XM_024450300.1:c.12238T=	XP_024306068.1:p.Tyr4080=
XM_024450301.1:c.10324T=	XP_024306069.1:p.Tyr3442=
NM_000296.4:c.12325T=	NP_000287.4:p.Tyr4109=
NM_001009944.3:c.12328T= MANE Select	NP_001009944.3:p.Tyr4110=