Canonical Allele Identifier: CA394382792

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111574-C-A
• MyVariant Identifiers: chr16:g.2161575C>A (hg19) ; chr16:g.2111574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111574C>A , CM000678.2:g.2111574C>A	GRCh38
NC_000016.9:g.2161575C>A , CM000678.1:g.2161575C>A	GRCh37
NC_000016.8:g.2101576C>A	NCBI36
NG_008617.1:g.29325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3593G>T MANE Select	ENSP00000262304.4:p.Ser1198Ile
ENST00000262304.8:c.3593G>T	ENSP00000262304.4:p.Ser1198Ile
ENST00000415938.7:n.310+766G>T
ENST00000423118.5:c.3593G>T	ENSP00000399501.1:p.Ser1198Ile
ENST00000468674.5:n.430+766G>T
ENST00000469241.2:n.543G>T
ENST00000483024.1:c.233+242G>T
ENST00000483731.5:n.790+766G>T
ENST00000488185.2:c.473-3216G>T
ENST00000565639.6:n.773+766G>T
ENST00000568591.5:c.2226+766G>T	ENSP00000457162.1:n.2226+766G>T
ENST00000569983.5:n.421+766G>T
NM_000296.3:c.3593G>T	NP_000287.3:p.Ser1198Ile
NM_001009944.2:c.3593G>T	NP_001009944.2:p.Ser1198Ile
XM_005255370.2:c.548G>T	XP_005255427.1:p.Ser183Ile
XM_011522525.1:c.3671G>T	XP_011520827.1:p.Ser1224Ile
XM_011522526.1:c.3671G>T	XP_011520828.1:p.Ser1224Ile
XM_011522527.1:c.3671G>T	XP_011520829.1:p.Ser1224Ile
XM_011522528.1:c.3647G>T	XP_011520830.1:p.Ser1216Ile
XM_011522529.1:c.3647G>T	XP_011520831.1:p.Ser1216Ile
XM_011522530.1:c.3617G>T	XP_011520832.1:p.Ser1206Ile
XM_011522531.1:c.3599G>T	XP_011520833.1:p.Ser1200Ile
XM_011522532.1:c.3545G>T	XP_011520834.1:p.Ser1182Ile
XM_011522533.1:c.3464G>T	XP_011520835.1:p.Ser1155Ile
XM_011522534.1:c.3407G>T	XP_011520836.1:p.Ser1136Ile
XM_011522535.1:c.1493G>T	XP_011520837.1:p.Ser498Ile
XM_011522536.1:c.3671G>T	XP_011520838.1:p.Ser1224Ile
XM_011522537.1:c.671G>T	XP_011520839.1:p.Ser224Ile
XR_932867.1:n.3686G>T
XR_932868.1:n.3686G>T
XR_932869.1:n.3686G>T
XR_932870.1:n.3686G>T
XM_005255370.3:c.548G>T	XP_005255427.1:p.Ser183Ile
XM_011522528.3:c.3647G>T	XP_011520830.1:p.Ser1216Ile
XM_011522529.2:c.3647G>T	XP_011520831.1:p.Ser1216Ile
XM_011522537.2:c.671G>T	XP_011520839.1:p.Ser224Ile
XM_024450298.1:c.3713G>T	XP_024306066.1:p.Ser1238Ile
XM_024450299.1:c.3641G>T	XP_024306067.1:p.Ser1214Ile
XM_024450300.1:c.3503G>T	XP_024306068.1:p.Ser1168Ile
XM_024450301.1:c.1589G>T	XP_024306069.1:p.Ser530Ile
NM_000296.4:c.3593G>T	NP_000287.4:p.Ser1198Ile
NM_001009944.3:c.3593G>T MANE Select	NP_001009944.3:p.Ser1198Ile