Canonical Allele Identifier: CA394370104

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106545-G-T
• MyVariant Identifiers: chr16:g.2156546G>T (hg19) ; chr16:g.2106545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106545G>T , CM000678.2:g.2106545G>T	GRCh38
NC_000016.9:g.2156546G>T , CM000678.1:g.2156546G>T	GRCh37
NC_000016.8:g.2096547G>T	NCBI36
NG_008617.1:g.34354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7342C>A MANE Select	ENSP00000262304.4:p.Leu2448Ile
ENST00000262304.8:c.7342C>A	ENSP00000262304.4:p.Leu2448Ile
ENST00000415938.7:n.587C>A
ENST00000423118.5:c.7342C>A	ENSP00000399501.1:p.Leu2448Ile
ENST00000483558.5:n.401C>A
ENST00000483731.5:n.1067C>A
ENST00000486339.6:n.1088C>A
ENST00000487932.5:c.2029C>A	ENSP00000457132.1:p.Leu677Ile
ENST00000496574.6:n.1345C>A
ENST00000565639.6:n.1050C>A
ENST00000568591.5:c.2503C>A	ENSP00000457162.1:n.2503C>A
ENST00000569983.5:n.698C>A
NM_000296.3:c.7342C>A	NP_000287.3:p.Leu2448Ile
NM_001009944.2:c.7342C>A	NP_001009944.2:p.Leu2448Ile
XM_005255370.2:c.4297C>A	XP_005255427.1:p.Leu1433Ile
XM_011522525.1:c.7420C>A	XP_011520827.1:p.Leu2474Ile
XM_011522526.1:c.7420C>A	XP_011520828.1:p.Leu2474Ile
XM_011522527.1:c.7420C>A	XP_011520829.1:p.Leu2474Ile
XM_011522528.1:c.7396C>A	XP_011520830.1:p.Leu2466Ile
XM_011522529.1:c.7396C>A	XP_011520831.1:p.Leu2466Ile
XM_011522530.1:c.7366C>A	XP_011520832.1:p.Leu2456Ile
XM_011522531.1:c.7348C>A	XP_011520833.1:p.Leu2450Ile
XM_011522532.1:c.7294C>A	XP_011520834.1:p.Leu2432Ile
XM_011522533.1:c.7213C>A	XP_011520835.1:p.Leu2405Ile
XM_011522534.1:c.7156C>A	XP_011520836.1:p.Leu2386Ile
XM_011522535.1:c.5242C>A	XP_011520837.1:p.Leu1748Ile
XM_011522536.1:c.7420C>A	XP_011520838.1:p.Leu2474Ile
XM_011522537.1:c.4420C>A	XP_011520839.1:p.Leu1474Ile
XR_932867.1:n.7435C>A
XR_932868.1:n.7435C>A
XR_932869.1:n.7435C>A
XR_932870.1:n.7435C>A
XM_005255370.3:c.4297C>A	XP_005255427.1:p.Leu1433Ile
XM_011522528.3:c.7396C>A	XP_011520830.1:p.Leu2466Ile
XM_011522529.2:c.7396C>A	XP_011520831.1:p.Leu2466Ile
XM_011522537.2:c.4420C>A	XP_011520839.1:p.Leu1474Ile
XM_024450298.1:c.7462C>A	XP_024306066.1:p.Leu2488Ile
XM_024450299.1:c.7390C>A	XP_024306067.1:p.Leu2464Ile
XM_024450300.1:c.7252C>A	XP_024306068.1:p.Leu2418Ile
XM_024450301.1:c.5338C>A	XP_024306069.1:p.Leu1780Ile
NM_000296.4:c.7342C>A	NP_000287.4:p.Leu2448Ile
NM_001009944.3:c.7342C>A MANE Select	NP_001009944.3:p.Leu2448Ile