Canonical Allele Identifier: CA493046719

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106531-G-A
• MyVariant Identifiers: chr16:g.2156532G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106531G>A , CM000678.2:g.2106531G>A	GRCh38
NC_000016.9:g.2156532G>A , CM000678.1:g.2156532G>A	GRCh37
NC_000016.8:g.2096533G>A	NCBI36
NG_008617.1:g.34368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7356C>T MANE Select	ENSP00000262304.4:p.Gly2452=
ENST00000262304.8:c.7356C>T	ENSP00000262304.4:p.Gly2452=
ENST00000415938.7:n.601C>T
ENST00000423118.5:c.7356C>T	ENSP00000399501.1:p.Gly2452=
ENST00000483558.5:n.415C>T
ENST00000483731.5:n.1081C>T
ENST00000486339.6:n.1102C>T
ENST00000487932.5:c.2043C>T	ENSP00000457132.1:p.Gly681=
ENST00000496574.6:n.1359C>T
ENST00000565639.6:n.1064C>T
ENST00000568591.5:c.2517C>T	ENSP00000457162.1:n.2517C>T
ENST00000569983.5:n.712C>T
NM_000296.3:c.7356C>T	NP_000287.3:p.Gly2452=
NM_001009944.2:c.7356C>T	NP_001009944.2:p.Gly2452=
XM_005255370.2:c.4311C>T	XP_005255427.1:p.Gly1437=
XM_011522525.1:c.7434C>T	XP_011520827.1:p.Gly2478=
XM_011522526.1:c.7434C>T	XP_011520828.1:p.Gly2478=
XM_011522527.1:c.7434C>T	XP_011520829.1:p.Gly2478=
XM_011522528.1:c.7410C>T	XP_011520830.1:p.Gly2470=
XM_011522529.1:c.7410C>T	XP_011520831.1:p.Gly2470=
XM_011522530.1:c.7380C>T	XP_011520832.1:p.Gly2460=
XM_011522531.1:c.7362C>T	XP_011520833.1:p.Gly2454=
XM_011522532.1:c.7308C>T	XP_011520834.1:p.Gly2436=
XM_011522533.1:c.7227C>T	XP_011520835.1:p.Gly2409=
XM_011522534.1:c.7170C>T	XP_011520836.1:p.Gly2390=
XM_011522535.1:c.5256C>T	XP_011520837.1:p.Gly1752=
XM_011522536.1:c.7434C>T	XP_011520838.1:p.Gly2478=
XM_011522537.1:c.4434C>T	XP_011520839.1:p.Gly1478=
XR_932867.1:n.7449C>T
XR_932868.1:n.7449C>T
XR_932869.1:n.7449C>T
XR_932870.1:n.7449C>T
XM_005255370.3:c.4311C>T	XP_005255427.1:p.Gly1437=
XM_011522528.3:c.7410C>T	XP_011520830.1:p.Gly2470=
XM_011522529.2:c.7410C>T	XP_011520831.1:p.Gly2470=
XM_011522537.2:c.4434C>T	XP_011520839.1:p.Gly1478=
XM_024450298.1:c.7476C>T	XP_024306066.1:p.Gly2492=
XM_024450299.1:c.7404C>T	XP_024306067.1:p.Gly2468=
XM_024450300.1:c.7266C>T	XP_024306068.1:p.Gly2422=
XM_024450301.1:c.5352C>T	XP_024306069.1:p.Gly1784=
NM_000296.4:c.7356C>T	NP_000287.4:p.Gly2452=
NM_001009944.3:c.7356C>T MANE Select	NP_001009944.3:p.Gly2452=