Canonical Allele Identifier: CA493046920

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106642-C-T
• MyVariant Identifiers: chr16:g.2156643C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106642C>T , CM000678.2:g.2106642C>T	GRCh38
NC_000016.9:g.2156643C>T , CM000678.1:g.2156643C>T	GRCh37
NC_000016.8:g.2096644C>T	NCBI36
NG_008617.1:g.34257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7245G>A MANE Select	ENSP00000262304.4:p.Leu2415=
ENST00000262304.8:c.7245G>A	ENSP00000262304.4:p.Leu2415=
ENST00000415938.7:n.490G>A
ENST00000423118.5:c.7245G>A	ENSP00000399501.1:p.Leu2415=
ENST00000483024.1:c.413G>A
ENST00000483558.5:n.304G>A
ENST00000483731.5:n.970G>A
ENST00000486339.6:n.991G>A
ENST00000487932.5:c.1932G>A	ENSP00000457132.1:p.Leu644=
ENST00000496574.6:n.1248G>A
ENST00000565639.6:n.953G>A
ENST00000568591.5:c.2406G>A	ENSP00000457162.1:n.2406G>A
ENST00000569983.5:n.601G>A
NM_000296.3:c.7245G>A	NP_000287.3:p.Leu2415=
NM_001009944.2:c.7245G>A	NP_001009944.2:p.Leu2415=
XM_005255370.2:c.4200G>A	XP_005255427.1:p.Leu1400=
XM_011522525.1:c.7323G>A	XP_011520827.1:p.Leu2441=
XM_011522526.1:c.7323G>A	XP_011520828.1:p.Leu2441=
XM_011522527.1:c.7323G>A	XP_011520829.1:p.Leu2441=
XM_011522528.1:c.7299G>A	XP_011520830.1:p.Leu2433=
XM_011522529.1:c.7299G>A	XP_011520831.1:p.Leu2433=
XM_011522530.1:c.7269G>A	XP_011520832.1:p.Leu2423=
XM_011522531.1:c.7251G>A	XP_011520833.1:p.Leu2417=
XM_011522532.1:c.7197G>A	XP_011520834.1:p.Leu2399=
XM_011522533.1:c.7116G>A	XP_011520835.1:p.Leu2372=
XM_011522534.1:c.7059G>A	XP_011520836.1:p.Leu2353=
XM_011522535.1:c.5145G>A	XP_011520837.1:p.Leu1715=
XM_011522536.1:c.7323G>A	XP_011520838.1:p.Leu2441=
XM_011522537.1:c.4323G>A	XP_011520839.1:p.Leu1441=
XR_932867.1:n.7338G>A
XR_932868.1:n.7338G>A
XR_932869.1:n.7338G>A
XR_932870.1:n.7338G>A
XM_005255370.3:c.4200G>A	XP_005255427.1:p.Leu1400=
XM_011522528.3:c.7299G>A	XP_011520830.1:p.Leu2433=
XM_011522529.2:c.7299G>A	XP_011520831.1:p.Leu2433=
XM_011522537.2:c.4323G>A	XP_011520839.1:p.Leu1441=
XM_024450298.1:c.7365G>A	XP_024306066.1:p.Leu2455=
XM_024450299.1:c.7293G>A	XP_024306067.1:p.Leu2431=
XM_024450300.1:c.7155G>A	XP_024306068.1:p.Leu2385=
XM_024450301.1:c.5241G>A	XP_024306069.1:p.Leu1747=
NM_000296.4:c.7245G>A	NP_000287.4:p.Leu2415=
NM_001009944.3:c.7245G>A MANE Select	NP_001009944.3:p.Leu2415=