Canonical Allele Identifier: CA7832711

Gene: PKD1

Linked Data

• ClinVar Variation Id: 586269
• ClinVar RCV Id: RCV000712614 ; RCV002499292
• dbSNP Id: rs372882189
• ExAC: 16:2161568 C / T
• gnomAD v2: 16-2161568-C-T
• gnomAD v3: 16-2111567-C-T
• gnomAD v4: 16-2111567-C-T
• MyVariant Identifiers: chr16:g.2161568C>T (hg19) ; chr16:g.2111567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111567C>T , CM000678.2:g.2111567C>T	GRCh38
NC_000016.9:g.2161568C>T , CM000678.1:g.2161568C>T	GRCh37
NC_000016.8:g.2101569C>T	NCBI36
NG_008617.1:g.29332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3600G>A MANE Select	ENSP00000262304.4:p.Ala1200=
ENST00000262304.8:c.3600G>A	ENSP00000262304.4:p.Ala1200=
ENST00000415938.7:n.310+773G>A
ENST00000423118.5:c.3600G>A	ENSP00000399501.1:p.Ala1200=
ENST00000468674.5:n.430+773G>A
ENST00000469241.2:n.550G>A
ENST00000483024.1:c.233+249G>A
ENST00000483731.5:n.790+773G>A
ENST00000488185.2:c.473-3209G>A
ENST00000565639.6:n.773+773G>A
ENST00000568591.5:c.2226+773G>A	ENSP00000457162.1:n.2226+773G>A
ENST00000569983.5:n.421+773G>A
NM_000296.3:c.3600G>A	NP_000287.3:p.Ala1200=
NM_001009944.2:c.3600G>A	NP_001009944.2:p.Ala1200=
XM_005255370.2:c.555G>A	XP_005255427.1:p.Ala185=
XM_011522525.1:c.3678G>A	XP_011520827.1:p.Ala1226=
XM_011522526.1:c.3678G>A	XP_011520828.1:p.Ala1226=
XM_011522527.1:c.3678G>A	XP_011520829.1:p.Ala1226=
XM_011522528.1:c.3654G>A	XP_011520830.1:p.Ala1218=
XM_011522529.1:c.3654G>A	XP_011520831.1:p.Ala1218=
XM_011522530.1:c.3624G>A	XP_011520832.1:p.Ala1208=
XM_011522531.1:c.3606G>A	XP_011520833.1:p.Ala1202=
XM_011522532.1:c.3552G>A	XP_011520834.1:p.Ala1184=
XM_011522533.1:c.3471G>A	XP_011520835.1:p.Ala1157=
XM_011522534.1:c.3414G>A	XP_011520836.1:p.Ala1138=
XM_011522535.1:c.1500G>A	XP_011520837.1:p.Ala500=
XM_011522536.1:c.3678G>A	XP_011520838.1:p.Ala1226=
XM_011522537.1:c.678G>A	XP_011520839.1:p.Ala226=
XR_932867.1:n.3693G>A
XR_932868.1:n.3693G>A
XR_932869.1:n.3693G>A
XR_932870.1:n.3693G>A
XM_005255370.3:c.555G>A	XP_005255427.1:p.Ala185=
XM_011522528.3:c.3654G>A	XP_011520830.1:p.Ala1218=
XM_011522529.2:c.3654G>A	XP_011520831.1:p.Ala1218=
XM_011522537.2:c.678G>A	XP_011520839.1:p.Ala226=
XM_024450298.1:c.3720G>A	XP_024306066.1:p.Ala1240=
XM_024450299.1:c.3648G>A	XP_024306067.1:p.Ala1216=
XM_024450300.1:c.3510G>A	XP_024306068.1:p.Ala1170=
XM_024450301.1:c.1596G>A	XP_024306069.1:p.Ala532=
NM_000296.4:c.3600G>A	NP_000287.4:p.Ala1200=
NM_001009944.3:c.3600G>A MANE Select	NP_001009944.3:p.Ala1200=