Canonical Allele Identifier: CA2202041605

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090390C= , CM000678.2:g.2090390C=	GRCh38
NC_000016.9:g.2140391C= , CM000678.1:g.2140391C=	GRCh37
NC_000016.8:g.2080392C=	NCBI36
NG_005895.1:g.46085C= , LRG_487:g.46085C=
NG_008617.1:g.52831G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12339G= MANE Select	ENSP00000262304.4:p.Leu4113=
ENST00000262304.8:c.12339G=	ENSP00000262304.4:p.Leu4113=
ENST00000423118.5:c.12336G=	ENSP00000399501.1:p.Leu4112=
ENST00000472577.1:n.367G=
NM_000296.3:c.12336G=	NP_000287.3:p.Leu4112=
NM_001009944.2:c.12339G=	NP_001009944.2:p.Leu4113=
XM_005255370.2:c.9294G=	XP_005255427.1:p.Leu3098=
XM_011522525.1:c.12417G=	XP_011520827.1:p.Leu4139=
XM_011522526.1:c.12414G=	XP_011520828.1:p.Leu4138=
XM_011522527.1:c.12399G=	XP_011520829.1:p.Leu4133=
XM_011522528.1:c.12393G=	XP_011520830.1:p.Leu4131=
XM_011522529.1:c.12390G=	XP_011520831.1:p.Leu4130=
XM_011522530.1:c.12363G=	XP_011520832.1:p.Leu4121=
XM_011522531.1:c.12345G=	XP_011520833.1:p.Leu4115=
XM_011522532.1:c.12291G=	XP_011520834.1:p.Leu4097=
XM_011522533.1:c.12210G=	XP_011520835.1:p.Leu4070=
XM_011522534.1:c.12153G=	XP_011520836.1:p.Leu4051=
XM_011522535.1:c.10239G=	XP_011520837.1:p.Leu3413=
XM_011522537.1:c.9417G=	XP_011520839.1:p.Leu3139=
XR_932867.1:n.12257G=
XM_005255370.3:c.9294G=	XP_005255427.1:p.Leu3098=
XM_011522528.3:c.12393G=	XP_011520830.1:p.Leu4131=
XM_011522529.2:c.12390G=	XP_011520831.1:p.Leu4130=
XM_011522537.2:c.9417G=	XP_011520839.1:p.Leu3139=
XM_024450298.1:c.12459G=	XP_024306066.1:p.Leu4153=
XM_024450299.1:c.12387G=	XP_024306067.1:p.Leu4129=
XM_024450300.1:c.12249G=	XP_024306068.1:p.Leu4083=
XM_024450301.1:c.10335G=	XP_024306069.1:p.Leu3445=
NM_000296.4:c.12336G=	NP_000287.4:p.Leu4112=
NM_001009944.3:c.12339G= MANE Select	NP_001009944.3:p.Leu4113=