Canonical Allele Identifier: CA394382764

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161560T>A (hg19) ; chr16:g.2111559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111559T>A , CM000678.2:g.2111559T>A	GRCh38
NC_000016.9:g.2161560T>A , CM000678.1:g.2161560T>A	GRCh37
NC_000016.8:g.2101561T>A	NCBI36
NG_008617.1:g.29340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3608A>T MANE Select	ENSP00000262304.4:p.Gln1203Leu
ENST00000262304.8:c.3608A>T	ENSP00000262304.4:p.Gln1203Leu
ENST00000415938.7:n.310+781A>T
ENST00000423118.5:c.3608A>T	ENSP00000399501.1:p.Gln1203Leu
ENST00000468674.5:n.430+781A>T
ENST00000469241.2:n.558A>T
ENST00000483024.1:c.233+257A>T
ENST00000483731.5:n.790+781A>T
ENST00000488185.2:c.473-3201A>T
ENST00000565639.6:n.773+781A>T
ENST00000568591.5:c.2226+781A>T	ENSP00000457162.1:n.2226+781A>T
ENST00000569983.5:n.421+781A>T
NM_000296.3:c.3608A>T	NP_000287.3:p.Gln1203Leu
NM_001009944.2:c.3608A>T	NP_001009944.2:p.Gln1203Leu
XM_005255370.2:c.563A>T	XP_005255427.1:p.Gln188Leu
XM_011522525.1:c.3686A>T	XP_011520827.1:p.Gln1229Leu
XM_011522526.1:c.3686A>T	XP_011520828.1:p.Gln1229Leu
XM_011522527.1:c.3686A>T	XP_011520829.1:p.Gln1229Leu
XM_011522528.1:c.3662A>T	XP_011520830.1:p.Gln1221Leu
XM_011522529.1:c.3662A>T	XP_011520831.1:p.Gln1221Leu
XM_011522530.1:c.3632A>T	XP_011520832.1:p.Gln1211Leu
XM_011522531.1:c.3614A>T	XP_011520833.1:p.Gln1205Leu
XM_011522532.1:c.3560A>T	XP_011520834.1:p.Gln1187Leu
XM_011522533.1:c.3479A>T	XP_011520835.1:p.Gln1160Leu
XM_011522534.1:c.3422A>T	XP_011520836.1:p.Gln1141Leu
XM_011522535.1:c.1508A>T	XP_011520837.1:p.Gln503Leu
XM_011522536.1:c.3686A>T	XP_011520838.1:p.Gln1229Leu
XM_011522537.1:c.686A>T	XP_011520839.1:p.Gln229Leu
XR_932867.1:n.3701A>T
XR_932868.1:n.3701A>T
XR_932869.1:n.3701A>T
XR_932870.1:n.3701A>T
XM_005255370.3:c.563A>T	XP_005255427.1:p.Gln188Leu
XM_011522528.3:c.3662A>T	XP_011520830.1:p.Gln1221Leu
XM_011522529.2:c.3662A>T	XP_011520831.1:p.Gln1221Leu
XM_011522537.2:c.686A>T	XP_011520839.1:p.Gln229Leu
XM_024450298.1:c.3728A>T	XP_024306066.1:p.Gln1243Leu
XM_024450299.1:c.3656A>T	XP_024306067.1:p.Gln1219Leu
XM_024450300.1:c.3518A>T	XP_024306068.1:p.Gln1173Leu
XM_024450301.1:c.1604A>T	XP_024306069.1:p.Gln535Leu
NM_000296.4:c.3608A>T	NP_000287.4:p.Gln1203Leu
NM_001009944.3:c.3608A>T MANE Select	NP_001009944.3:p.Gln1203Leu