Canonical Allele Identifier: CA7832695

Gene: PKD1

Linked Data

• ClinVar Variation Id: 997254
• ClinVar RCV Id: RCV001292258
• dbSNP Id: rs753613908
• ExAC: 16:2161532 G / A
• gnomAD v2: 16-2161532-G-A
• gnomAD v4: 16-2111531-G-A
• MyVariant Identifiers: chr16:g.2161532G>A (hg19) ; chr16:g.2111531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111531G>A , CM000678.2:g.2111531G>A	GRCh38
NC_000016.9:g.2161532G>A , CM000678.1:g.2161532G>A	GRCh37
NC_000016.8:g.2101533G>A	NCBI36
NG_008617.1:g.29368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3636C>T MANE Select	ENSP00000262304.4:p.Leu1212=
ENST00000262304.8:c.3636C>T	ENSP00000262304.4:p.Leu1212=
ENST00000415938.7:n.310+809C>T
ENST00000423118.5:c.3636C>T	ENSP00000399501.1:p.Leu1212=
ENST00000468674.5:n.430+809C>T
ENST00000469241.2:n.586C>T
ENST00000483024.1:c.233+285C>T
ENST00000483731.5:n.790+809C>T
ENST00000488185.2:c.473-3173C>T
ENST00000565639.6:n.773+809C>T
ENST00000568591.5:c.2226+809C>T	ENSP00000457162.1:n.2226+809C>T
ENST00000569983.5:n.421+809C>T
NM_000296.3:c.3636C>T	NP_000287.3:p.Leu1212=
NM_001009944.2:c.3636C>T	NP_001009944.2:p.Leu1212=
XM_005255370.2:c.591C>T	XP_005255427.1:p.Leu197=
XM_011522525.1:c.3714C>T	XP_011520827.1:p.Leu1238=
XM_011522526.1:c.3714C>T	XP_011520828.1:p.Leu1238=
XM_011522527.1:c.3714C>T	XP_011520829.1:p.Leu1238=
XM_011522528.1:c.3690C>T	XP_011520830.1:p.Leu1230=
XM_011522529.1:c.3690C>T	XP_011520831.1:p.Leu1230=
XM_011522530.1:c.3660C>T	XP_011520832.1:p.Leu1220=
XM_011522531.1:c.3642C>T	XP_011520833.1:p.Leu1214=
XM_011522532.1:c.3588C>T	XP_011520834.1:p.Leu1196=
XM_011522533.1:c.3507C>T	XP_011520835.1:p.Leu1169=
XM_011522534.1:c.3450C>T	XP_011520836.1:p.Leu1150=
XM_011522535.1:c.1536C>T	XP_011520837.1:p.Leu512=
XM_011522536.1:c.3714C>T	XP_011520838.1:p.Leu1238=
XM_011522537.1:c.714C>T	XP_011520839.1:p.Leu238=
XR_932867.1:n.3729C>T
XR_932868.1:n.3729C>T
XR_932869.1:n.3729C>T
XR_932870.1:n.3729C>T
XM_005255370.3:c.591C>T	XP_005255427.1:p.Leu197=
XM_011522528.3:c.3690C>T	XP_011520830.1:p.Leu1230=
XM_011522529.2:c.3690C>T	XP_011520831.1:p.Leu1230=
XM_011522537.2:c.714C>T	XP_011520839.1:p.Leu238=
XM_024450298.1:c.3756C>T	XP_024306066.1:p.Leu1252=
XM_024450299.1:c.3684C>T	XP_024306067.1:p.Leu1228=
XM_024450300.1:c.3546C>T	XP_024306068.1:p.Leu1182=
XM_024450301.1:c.1632C>T	XP_024306069.1:p.Leu544=
NM_000296.4:c.3636C>T	NP_000287.4:p.Leu1212=
NM_001009944.3:c.3636C>T MANE Select	NP_001009944.3:p.Leu1212=