Canonical Allele Identifier: CA2202041343

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090309C= , CM000678.2:g.2090309C=	GRCh38
NC_000016.9:g.2140310C= , CM000678.1:g.2140310C=	GRCh37
NC_000016.8:g.2080311C=	NCBI36
NG_005895.1:g.46004C= , LRG_487:g.46004C=
NG_008617.1:g.52912G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.12420G= MANE Select	NP_001009944.3:p.Trp4140=
ENST00000262304.9:c.12420G= MANE Select	ENSP00000262304.4:p.Trp4140=
NM_000296.3:c.12417G=	NP_000287.3:p.Trp4139=
NM_000296.4:c.12417G=	NP_000287.4:p.Trp4139=
NM_001009944.2:c.12420G=	NP_001009944.2:p.Trp4140=
ENST00000262304.8:c.12420G=	ENSP00000262304.4:p.Trp4140=
ENST00000423118.5:c.12417G=	ENSP00000399501.1:p.Trp4139=
ENST00000472577.1:n.448G=
XM_005255370.2:c.9375G=	XP_005255427.1:p.Trp3125=
XM_005255370.3:c.9375G=	XP_005255427.1:p.Trp3125=
XM_011522525.1:c.12498G=	XP_011520827.1:p.Trp4166=
XM_011522526.1:c.12495G=	XP_011520828.1:p.Trp4165=
XM_011522527.1:c.12480G=	XP_011520829.1:p.Trp4160=
XM_011522528.1:c.12474G=	XP_011520830.1:p.Trp4158=
XM_011522528.3:c.12474G=	XP_011520830.1:p.Trp4158=
XM_011522529.1:c.12471G=	XP_011520831.1:p.Trp4157=
XM_011522529.2:c.12471G=	XP_011520831.1:p.Trp4157=
XM_011522530.1:c.12444G=	XP_011520832.1:p.Trp4148=
XM_011522531.1:c.12426G=	XP_011520833.1:p.Trp4142=
XM_011522532.1:c.12372G=	XP_011520834.1:p.Trp4124=
XM_011522533.1:c.12291G=	XP_011520835.1:p.Trp4097=
XM_011522534.1:c.12234G=	XP_011520836.1:p.Trp4078=
XM_011522535.1:c.10320G=	XP_011520837.1:p.Trp3440=
XM_011522537.1:c.9498G=	XP_011520839.1:p.Trp3166=
XM_011522537.2:c.9498G=	XP_011520839.1:p.Trp3166=
XM_024450298.1:c.12540G=	XP_024306066.1:p.Trp4180=
XM_024450299.1:c.12468G=	XP_024306067.1:p.Trp4156=
XM_024450300.1:c.12330G=	XP_024306068.1:p.Trp4110=
XM_024450301.1:c.10416G=	XP_024306069.1:p.Trp3472=
XR_932867.1:n.12338G=