Canonical Allele Identifier: CA7832690

Gene: PKD1

Linked Data

• ClinVar Variation Id: 805160
• ClinVar RCV Id: RCV000992575 ; RCV002497289
• dbSNP Id: rs767721989
• ExAC: 16:2161526 T / C
• gnomAD v2: 16-2161526-T-C
• gnomAD v3: 16-2111525-T-C
• gnomAD v4: 16-2111525-T-C
• MyVariant Identifiers: chr16:g.2161526T>C (hg19) ; chr16:g.2111525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111525T>C , CM000678.2:g.2111525T>C	GRCh38
NC_000016.9:g.2161526T>C , CM000678.1:g.2161526T>C	GRCh37
NC_000016.8:g.2101527T>C	NCBI36
NG_008617.1:g.29374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3642A>G MANE Select	ENSP00000262304.4:p.Gly1214=
ENST00000262304.8:c.3642A>G	ENSP00000262304.4:p.Gly1214=
ENST00000415938.7:n.310+815A>G
ENST00000423118.5:c.3642A>G	ENSP00000399501.1:p.Gly1214=
ENST00000468674.5:n.430+815A>G
ENST00000469241.2:n.592A>G
ENST00000483024.1:c.233+291A>G
ENST00000483731.5:n.790+815A>G
ENST00000488185.2:c.473-3167A>G
ENST00000565639.6:n.773+815A>G
ENST00000568591.5:c.2226+815A>G	ENSP00000457162.1:n.2226+815A>G
ENST00000569983.5:n.421+815A>G
NM_000296.3:c.3642A>G	NP_000287.3:p.Gly1214=
NM_001009944.2:c.3642A>G	NP_001009944.2:p.Gly1214=
XM_005255370.2:c.597A>G	XP_005255427.1:p.Gly199=
XM_011522525.1:c.3720A>G	XP_011520827.1:p.Gly1240=
XM_011522526.1:c.3720A>G	XP_011520828.1:p.Gly1240=
XM_011522527.1:c.3720A>G	XP_011520829.1:p.Gly1240=
XM_011522528.1:c.3696A>G	XP_011520830.1:p.Gly1232=
XM_011522529.1:c.3696A>G	XP_011520831.1:p.Gly1232=
XM_011522530.1:c.3666A>G	XP_011520832.1:p.Gly1222=
XM_011522531.1:c.3648A>G	XP_011520833.1:p.Gly1216=
XM_011522532.1:c.3594A>G	XP_011520834.1:p.Gly1198=
XM_011522533.1:c.3513A>G	XP_011520835.1:p.Gly1171=
XM_011522534.1:c.3456A>G	XP_011520836.1:p.Gly1152=
XM_011522535.1:c.1542A>G	XP_011520837.1:p.Gly514=
XM_011522536.1:c.3720A>G	XP_011520838.1:p.Gly1240=
XM_011522537.1:c.720A>G	XP_011520839.1:p.Gly240=
XR_932867.1:n.3735A>G
XR_932868.1:n.3735A>G
XR_932869.1:n.3735A>G
XR_932870.1:n.3735A>G
XM_005255370.3:c.597A>G	XP_005255427.1:p.Gly199=
XM_011522528.3:c.3696A>G	XP_011520830.1:p.Gly1232=
XM_011522529.2:c.3696A>G	XP_011520831.1:p.Gly1232=
XM_011522537.2:c.720A>G	XP_011520839.1:p.Gly240=
XM_024450298.1:c.3762A>G	XP_024306066.1:p.Gly1254=
XM_024450299.1:c.3690A>G	XP_024306067.1:p.Gly1230=
XM_024450300.1:c.3552A>G	XP_024306068.1:p.Gly1184=
XM_024450301.1:c.1638A>G	XP_024306069.1:p.Gly546=
NM_000296.4:c.3642A>G	NP_000287.4:p.Gly1214=
NM_001009944.3:c.3642A>G MANE Select	NP_001009944.3:p.Gly1214=