Canonical Allele Identifier: CA394382778

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161567C>G (hg19) ; chr16:g.2111566C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111566C>G , CM000678.2:g.2111566C>G	GRCh38
NC_000016.9:g.2161567C>G , CM000678.1:g.2161567C>G	GRCh37
NC_000016.8:g.2101568C>G	NCBI36
NG_008617.1:g.29333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3601G>C MANE Select	ENSP00000262304.4:p.Ala1201Pro
ENST00000262304.8:c.3601G>C	ENSP00000262304.4:p.Ala1201Pro
ENST00000415938.7:n.310+774G>C
ENST00000423118.5:c.3601G>C	ENSP00000399501.1:p.Ala1201Pro
ENST00000468674.5:n.430+774G>C
ENST00000469241.2:n.551G>C
ENST00000483024.1:c.233+250G>C
ENST00000483731.5:n.790+774G>C
ENST00000488185.2:c.473-3208G>C
ENST00000565639.6:n.773+774G>C
ENST00000568591.5:c.2226+774G>C	ENSP00000457162.1:n.2226+774G>C
ENST00000569983.5:n.421+774G>C
NM_000296.3:c.3601G>C	NP_000287.3:p.Ala1201Pro
NM_001009944.2:c.3601G>C	NP_001009944.2:p.Ala1201Pro
XM_005255370.2:c.556G>C	XP_005255427.1:p.Ala186Pro
XM_011522525.1:c.3679G>C	XP_011520827.1:p.Ala1227Pro
XM_011522526.1:c.3679G>C	XP_011520828.1:p.Ala1227Pro
XM_011522527.1:c.3679G>C	XP_011520829.1:p.Ala1227Pro
XM_011522528.1:c.3655G>C	XP_011520830.1:p.Ala1219Pro
XM_011522529.1:c.3655G>C	XP_011520831.1:p.Ala1219Pro
XM_011522530.1:c.3625G>C	XP_011520832.1:p.Ala1209Pro
XM_011522531.1:c.3607G>C	XP_011520833.1:p.Ala1203Pro
XM_011522532.1:c.3553G>C	XP_011520834.1:p.Ala1185Pro
XM_011522533.1:c.3472G>C	XP_011520835.1:p.Ala1158Pro
XM_011522534.1:c.3415G>C	XP_011520836.1:p.Ala1139Pro
XM_011522535.1:c.1501G>C	XP_011520837.1:p.Ala501Pro
XM_011522536.1:c.3679G>C	XP_011520838.1:p.Ala1227Pro
XM_011522537.1:c.679G>C	XP_011520839.1:p.Ala227Pro
XR_932867.1:n.3694G>C
XR_932868.1:n.3694G>C
XR_932869.1:n.3694G>C
XR_932870.1:n.3694G>C
XM_005255370.3:c.556G>C	XP_005255427.1:p.Ala186Pro
XM_011522528.3:c.3655G>C	XP_011520830.1:p.Ala1219Pro
XM_011522529.2:c.3655G>C	XP_011520831.1:p.Ala1219Pro
XM_011522537.2:c.679G>C	XP_011520839.1:p.Ala227Pro
XM_024450298.1:c.3721G>C	XP_024306066.1:p.Ala1241Pro
XM_024450299.1:c.3649G>C	XP_024306067.1:p.Ala1217Pro
XM_024450300.1:c.3511G>C	XP_024306068.1:p.Ala1171Pro
XM_024450301.1:c.1597G>C	XP_024306069.1:p.Ala533Pro
NM_000296.4:c.3601G>C	NP_000287.4:p.Ala1201Pro
NM_001009944.3:c.3601G>C MANE Select	NP_001009944.3:p.Ala1201Pro