Canonical Allele Identifier: CA2202047759

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111675C= , CM000678.2:g.2111675C=	GRCh38
NC_000016.9:g.2161676C= , CM000678.1:g.2161676C=	GRCh37
NC_000016.8:g.2101677C=	NCBI36
NG_008617.1:g.29224G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3492G= MANE Select	ENSP00000262304.4:p.Gly1164=
ENST00000262304.8:c.3492G=	ENSP00000262304.4:p.Gly1164=
ENST00000415938.7:n.310+665G=
ENST00000423118.5:c.3492G=	ENSP00000399501.1:p.Gly1164=
ENST00000468674.5:n.430+665G=
ENST00000469241.2:n.442G=
ENST00000483024.1:c.233+141G=
ENST00000483731.5:n.790+665G=
ENST00000488185.2:c.473-3317G=
ENST00000565639.6:n.773+665G=
ENST00000568591.5:c.2226+665G=	ENSP00000457162.1:n.2226+665G=
ENST00000569983.5:n.421+665G=
NM_000296.3:c.3492G=	NP_000287.3:p.Gly1164=
NM_001009944.2:c.3492G=	NP_001009944.2:p.Gly1164=
XM_005255370.2:c.447G=	XP_005255427.1:p.Gly149=
XM_011522525.1:c.3570G=	XP_011520827.1:p.Gly1190=
XM_011522526.1:c.3570G=	XP_011520828.1:p.Gly1190=
XM_011522527.1:c.3570G=	XP_011520829.1:p.Gly1190=
XM_011522528.1:c.3546G=	XP_011520830.1:p.Gly1182=
XM_011522529.1:c.3546G=	XP_011520831.1:p.Gly1182=
XM_011522530.1:c.3516G=	XP_011520832.1:p.Gly1172=
XM_011522531.1:c.3498G=	XP_011520833.1:p.Gly1166=
XM_011522532.1:c.3444G=	XP_011520834.1:p.Gly1148=
XM_011522533.1:c.3363G=	XP_011520835.1:p.Gly1121=
XM_011522534.1:c.3306G=	XP_011520836.1:p.Gly1102=
XM_011522535.1:c.1392G=	XP_011520837.1:p.Gly464=
XM_011522536.1:c.3570G=	XP_011520838.1:p.Gly1190=
XM_011522537.1:c.570G=	XP_011520839.1:p.Gly190=
XR_932867.1:n.3585G=
XR_932868.1:n.3585G=
XR_932869.1:n.3585G=
XR_932870.1:n.3585G=
XM_005255370.3:c.447G=	XP_005255427.1:p.Gly149=
XM_011522528.3:c.3546G=	XP_011520830.1:p.Gly1182=
XM_011522529.2:c.3546G=	XP_011520831.1:p.Gly1182=
XM_011522537.2:c.570G=	XP_011520839.1:p.Gly190=
XM_024450298.1:c.3612G=	XP_024306066.1:p.Gly1204=
XM_024450299.1:c.3540G=	XP_024306067.1:p.Gly1180=
XM_024450300.1:c.3402G=	XP_024306068.1:p.Gly1134=
XM_024450301.1:c.1488G=	XP_024306069.1:p.Gly496=
NM_000296.4:c.3492G=	NP_000287.4:p.Gly1164=
NM_001009944.3:c.3492G= MANE Select	NP_001009944.3:p.Gly1164=