Canonical Allele Identifier: CA394371048

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106622-G-A
• MyVariant Identifiers: chr16:g.2156623G>A (hg19) ; chr16:g.2106622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106622G>A , CM000678.2:g.2106622G>A	GRCh38
NC_000016.9:g.2156623G>A , CM000678.1:g.2156623G>A	GRCh37
NC_000016.8:g.2096624G>A	NCBI36
NG_008617.1:g.34277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7265C>T MANE Select	ENSP00000262304.4:p.Thr2422Ile
ENST00000262304.8:c.7265C>T	ENSP00000262304.4:p.Thr2422Ile
ENST00000415938.7:n.510C>T
ENST00000423118.5:c.7265C>T	ENSP00000399501.1:p.Thr2422Ile
ENST00000483024.1:c.433C>T
ENST00000483558.5:n.324C>T
ENST00000483731.5:n.990C>T
ENST00000486339.6:n.1011C>T
ENST00000487932.5:c.1952C>T	ENSP00000457132.1:p.Thr651Ile
ENST00000496574.6:n.1268C>T
ENST00000565639.6:n.973C>T
ENST00000568591.5:c.2426C>T	ENSP00000457162.1:n.2426C>T
ENST00000569983.5:n.621C>T
NM_000296.3:c.7265C>T	NP_000287.3:p.Thr2422Ile
NM_001009944.2:c.7265C>T	NP_001009944.2:p.Thr2422Ile
XM_005255370.2:c.4220C>T	XP_005255427.1:p.Thr1407Ile
XM_011522525.1:c.7343C>T	XP_011520827.1:p.Thr2448Ile
XM_011522526.1:c.7343C>T	XP_011520828.1:p.Thr2448Ile
XM_011522527.1:c.7343C>T	XP_011520829.1:p.Thr2448Ile
XM_011522528.1:c.7319C>T	XP_011520830.1:p.Thr2440Ile
XM_011522529.1:c.7319C>T	XP_011520831.1:p.Thr2440Ile
XM_011522530.1:c.7289C>T	XP_011520832.1:p.Thr2430Ile
XM_011522531.1:c.7271C>T	XP_011520833.1:p.Thr2424Ile
XM_011522532.1:c.7217C>T	XP_011520834.1:p.Thr2406Ile
XM_011522533.1:c.7136C>T	XP_011520835.1:p.Thr2379Ile
XM_011522534.1:c.7079C>T	XP_011520836.1:p.Thr2360Ile
XM_011522535.1:c.5165C>T	XP_011520837.1:p.Thr1722Ile
XM_011522536.1:c.7343C>T	XP_011520838.1:p.Thr2448Ile
XM_011522537.1:c.4343C>T	XP_011520839.1:p.Thr1448Ile
XR_932867.1:n.7358C>T
XR_932868.1:n.7358C>T
XR_932869.1:n.7358C>T
XR_932870.1:n.7358C>T
XM_005255370.3:c.4220C>T	XP_005255427.1:p.Thr1407Ile
XM_011522528.3:c.7319C>T	XP_011520830.1:p.Thr2440Ile
XM_011522529.2:c.7319C>T	XP_011520831.1:p.Thr2440Ile
XM_011522537.2:c.4343C>T	XP_011520839.1:p.Thr1448Ile
XM_024450298.1:c.7385C>T	XP_024306066.1:p.Thr2462Ile
XM_024450299.1:c.7313C>T	XP_024306067.1:p.Thr2438Ile
XM_024450300.1:c.7175C>T	XP_024306068.1:p.Thr2392Ile
XM_024450301.1:c.5261C>T	XP_024306069.1:p.Thr1754Ile
NM_000296.4:c.7265C>T	NP_000287.4:p.Thr2422Ile
NM_001009944.3:c.7265C>T MANE Select	NP_001009944.3:p.Thr2422Ile