Canonical Allele Identifier: CA2202042267

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090688G= , CM000678.2:g.2090688G=	GRCh38
NC_000016.9:g.2140689G= , CM000678.1:g.2140689G=	GRCh37
NC_000016.8:g.2080690G=	NCBI36
NG_005895.1:g.46383G= , LRG_487:g.46383G=
NG_008617.1:g.52533C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.12124C= MANE Select	NP_001009944.3:p.Gln4042=
ENST00000262304.9:c.12124C= MANE Select	ENSP00000262304.4:p.Gln4042=
NM_000296.3:c.12121C=	NP_000287.3:p.Gln4041=
NM_000296.4:c.12121C=	NP_000287.4:p.Gln4041=
NM_001009944.2:c.12124C=	NP_001009944.2:p.Gln4042=
ENST00000262304.8:c.12124C=	ENSP00000262304.4:p.Gln4042=
ENST00000423118.5:c.12121C=	ENSP00000399501.1:p.Gln4041=
ENST00000472577.1:n.152C=
XM_005255370.2:c.9079C=	XP_005255427.1:p.Gln3027=
XM_005255370.3:c.9079C=	XP_005255427.1:p.Gln3027=
XM_011522525.1:c.12202C=	XP_011520827.1:p.Gln4068=
XM_011522526.1:c.12199C=	XP_011520828.1:p.Gln4067=
XM_011522527.1:c.12184C=	XP_011520829.1:p.Gln4062=
XM_011522528.1:c.12178C=	XP_011520830.1:p.Gln4060=
XM_011522528.3:c.12178C=	XP_011520830.1:p.Gln4060=
XM_011522529.1:c.12175C=	XP_011520831.1:p.Gln4059=
XM_011522529.2:c.12175C=	XP_011520831.1:p.Gln4059=
XM_011522530.1:c.12148C=	XP_011520832.1:p.Gln4050=
XM_011522531.1:c.12130C=	XP_011520833.1:p.Gln4044=
XM_011522532.1:c.12076C=	XP_011520834.1:p.Gln4026=
XM_011522533.1:c.11995C=	XP_011520835.1:p.Gln3999=
XM_011522534.1:c.11938C=	XP_011520836.1:p.Gln3980=
XM_011522535.1:c.10024C=	XP_011520837.1:p.Gln3342=
XM_011522537.1:c.9202C=	XP_011520839.1:p.Gln3068=
XM_011522537.2:c.9202C=	XP_011520839.1:p.Gln3068=
XM_024450298.1:c.12244C=	XP_024306066.1:p.Gln4082=
XM_024450299.1:c.12172C=	XP_024306067.1:p.Gln4058=
XM_024450300.1:c.12034C=	XP_024306068.1:p.Gln4012=
XM_024450301.1:c.10120C=	XP_024306069.1:p.Gln3374=
XR_932867.1:n.12042C=