Canonical Allele Identifier: CA493049563

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111612-G-A
• MyVariant Identifiers: chr16:g.2161613G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111612G>A , CM000678.2:g.2111612G>A	GRCh38
NC_000016.9:g.2161613G>A , CM000678.1:g.2161613G>A	GRCh37
NC_000016.8:g.2101614G>A	NCBI36
NG_008617.1:g.29287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3555C>T MANE Select	ENSP00000262304.4:p.Gly1185=
ENST00000262304.8:c.3555C>T	ENSP00000262304.4:p.Gly1185=
ENST00000415938.7:n.310+728C>T
ENST00000423118.5:c.3555C>T	ENSP00000399501.1:p.Gly1185=
ENST00000468674.5:n.430+728C>T
ENST00000469241.2:n.505C>T
ENST00000483024.1:c.233+204C>T
ENST00000483731.5:n.790+728C>T
ENST00000488185.2:c.473-3254C>T
ENST00000565639.6:n.773+728C>T
ENST00000568591.5:c.2226+728C>T	ENSP00000457162.1:n.2226+728C>T
ENST00000569983.5:n.421+728C>T
NM_000296.3:c.3555C>T	NP_000287.3:p.Gly1185=
NM_001009944.2:c.3555C>T	NP_001009944.2:p.Gly1185=
XM_005255370.2:c.510C>T	XP_005255427.1:p.Gly170=
XM_011522525.1:c.3633C>T	XP_011520827.1:p.Gly1211=
XM_011522526.1:c.3633C>T	XP_011520828.1:p.Gly1211=
XM_011522527.1:c.3633C>T	XP_011520829.1:p.Gly1211=
XM_011522528.1:c.3609C>T	XP_011520830.1:p.Gly1203=
XM_011522529.1:c.3609C>T	XP_011520831.1:p.Gly1203=
XM_011522530.1:c.3579C>T	XP_011520832.1:p.Gly1193=
XM_011522531.1:c.3561C>T	XP_011520833.1:p.Gly1187=
XM_011522532.1:c.3507C>T	XP_011520834.1:p.Gly1169=
XM_011522533.1:c.3426C>T	XP_011520835.1:p.Gly1142=
XM_011522534.1:c.3369C>T	XP_011520836.1:p.Gly1123=
XM_011522535.1:c.1455C>T	XP_011520837.1:p.Gly485=
XM_011522536.1:c.3633C>T	XP_011520838.1:p.Gly1211=
XM_011522537.1:c.633C>T	XP_011520839.1:p.Gly211=
XR_932867.1:n.3648C>T
XR_932868.1:n.3648C>T
XR_932869.1:n.3648C>T
XR_932870.1:n.3648C>T
XM_005255370.3:c.510C>T	XP_005255427.1:p.Gly170=
XM_011522528.3:c.3609C>T	XP_011520830.1:p.Gly1203=
XM_011522529.2:c.3609C>T	XP_011520831.1:p.Gly1203=
XM_011522537.2:c.633C>T	XP_011520839.1:p.Gly211=
XM_024450298.1:c.3675C>T	XP_024306066.1:p.Gly1225=
XM_024450299.1:c.3603C>T	XP_024306067.1:p.Gly1201=
XM_024450300.1:c.3465C>T	XP_024306068.1:p.Gly1155=
XM_024450301.1:c.1551C>T	XP_024306069.1:p.Gly517=
NM_000296.4:c.3555C>T	NP_000287.4:p.Gly1185=
NM_001009944.3:c.3555C>T MANE Select	NP_001009944.3:p.Gly1185=