Canonical Allele Identifier: CA493046908

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106636-C-A
• MyVariant Identifiers: chr16:g.2156637C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106636C>A , CM000678.2:g.2106636C>A	GRCh38
NC_000016.9:g.2156637C>A , CM000678.1:g.2156637C>A	GRCh37
NC_000016.8:g.2096638C>A	NCBI36
NG_008617.1:g.34263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7251G>T MANE Select	ENSP00000262304.4:p.Leu2417=
ENST00000262304.8:c.7251G>T	ENSP00000262304.4:p.Leu2417=
ENST00000415938.7:n.496G>T
ENST00000423118.5:c.7251G>T	ENSP00000399501.1:p.Leu2417=
ENST00000483024.1:c.419G>T
ENST00000483558.5:n.310G>T
ENST00000483731.5:n.976G>T
ENST00000486339.6:n.997G>T
ENST00000487932.5:c.1938G>T	ENSP00000457132.1:p.Leu646=
ENST00000496574.6:n.1254G>T
ENST00000565639.6:n.959G>T
ENST00000568591.5:c.2412G>T	ENSP00000457162.1:n.2412G>T
ENST00000569983.5:n.607G>T
NM_000296.3:c.7251G>T	NP_000287.3:p.Leu2417=
NM_001009944.2:c.7251G>T	NP_001009944.2:p.Leu2417=
XM_005255370.2:c.4206G>T	XP_005255427.1:p.Leu1402=
XM_011522525.1:c.7329G>T	XP_011520827.1:p.Leu2443=
XM_011522526.1:c.7329G>T	XP_011520828.1:p.Leu2443=
XM_011522527.1:c.7329G>T	XP_011520829.1:p.Leu2443=
XM_011522528.1:c.7305G>T	XP_011520830.1:p.Leu2435=
XM_011522529.1:c.7305G>T	XP_011520831.1:p.Leu2435=
XM_011522530.1:c.7275G>T	XP_011520832.1:p.Leu2425=
XM_011522531.1:c.7257G>T	XP_011520833.1:p.Leu2419=
XM_011522532.1:c.7203G>T	XP_011520834.1:p.Leu2401=
XM_011522533.1:c.7122G>T	XP_011520835.1:p.Leu2374=
XM_011522534.1:c.7065G>T	XP_011520836.1:p.Leu2355=
XM_011522535.1:c.5151G>T	XP_011520837.1:p.Leu1717=
XM_011522536.1:c.7329G>T	XP_011520838.1:p.Leu2443=
XM_011522537.1:c.4329G>T	XP_011520839.1:p.Leu1443=
XR_932867.1:n.7344G>T
XR_932868.1:n.7344G>T
XR_932869.1:n.7344G>T
XR_932870.1:n.7344G>T
XM_005255370.3:c.4206G>T	XP_005255427.1:p.Leu1402=
XM_011522528.3:c.7305G>T	XP_011520830.1:p.Leu2435=
XM_011522529.2:c.7305G>T	XP_011520831.1:p.Leu2435=
XM_011522537.2:c.4329G>T	XP_011520839.1:p.Leu1443=
XM_024450298.1:c.7371G>T	XP_024306066.1:p.Leu2457=
XM_024450299.1:c.7299G>T	XP_024306067.1:p.Leu2433=
XM_024450300.1:c.7161G>T	XP_024306068.1:p.Leu2387=
XM_024450301.1:c.5247G>T	XP_024306069.1:p.Leu1749=
NM_000296.4:c.7251G>T	NP_000287.4:p.Leu2417=
NM_001009944.3:c.7251G>T MANE Select	NP_001009944.3:p.Leu2417=