Canonical Allele Identifier: CA394371154

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106644-G-T
• MyVariant Identifiers: chr16:g.2156645G>T (hg19) ; chr16:g.2106644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106644G>T , CM000678.2:g.2106644G>T	GRCh38
NC_000016.9:g.2156645G>T , CM000678.1:g.2156645G>T	GRCh37
NC_000016.8:g.2096646G>T	NCBI36
NG_008617.1:g.34255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7243C>A MANE Select	ENSP00000262304.4:p.Leu2415Met
ENST00000262304.8:c.7243C>A	ENSP00000262304.4:p.Leu2415Met
ENST00000415938.7:n.488C>A
ENST00000423118.5:c.7243C>A	ENSP00000399501.1:p.Leu2415Met
ENST00000483024.1:c.411C>A
ENST00000483558.5:n.302C>A
ENST00000483731.5:n.968C>A
ENST00000486339.6:n.989C>A
ENST00000487932.5:c.1930C>A	ENSP00000457132.1:p.Leu644Met
ENST00000496574.6:n.1246C>A
ENST00000565639.6:n.951C>A
ENST00000568591.5:c.2404C>A	ENSP00000457162.1:n.2404C>A
ENST00000569983.5:n.599C>A
NM_000296.3:c.7243C>A	NP_000287.3:p.Leu2415Met
NM_001009944.2:c.7243C>A	NP_001009944.2:p.Leu2415Met
XM_005255370.2:c.4198C>A	XP_005255427.1:p.Leu1400Met
XM_011522525.1:c.7321C>A	XP_011520827.1:p.Leu2441Met
XM_011522526.1:c.7321C>A	XP_011520828.1:p.Leu2441Met
XM_011522527.1:c.7321C>A	XP_011520829.1:p.Leu2441Met
XM_011522528.1:c.7297C>A	XP_011520830.1:p.Leu2433Met
XM_011522529.1:c.7297C>A	XP_011520831.1:p.Leu2433Met
XM_011522530.1:c.7267C>A	XP_011520832.1:p.Leu2423Met
XM_011522531.1:c.7249C>A	XP_011520833.1:p.Leu2417Met
XM_011522532.1:c.7195C>A	XP_011520834.1:p.Leu2399Met
XM_011522533.1:c.7114C>A	XP_011520835.1:p.Leu2372Met
XM_011522534.1:c.7057C>A	XP_011520836.1:p.Leu2353Met
XM_011522535.1:c.5143C>A	XP_011520837.1:p.Leu1715Met
XM_011522536.1:c.7321C>A	XP_011520838.1:p.Leu2441Met
XM_011522537.1:c.4321C>A	XP_011520839.1:p.Leu1441Met
XR_932867.1:n.7336C>A
XR_932868.1:n.7336C>A
XR_932869.1:n.7336C>A
XR_932870.1:n.7336C>A
XM_005255370.3:c.4198C>A	XP_005255427.1:p.Leu1400Met
XM_011522528.3:c.7297C>A	XP_011520830.1:p.Leu2433Met
XM_011522529.2:c.7297C>A	XP_011520831.1:p.Leu2433Met
XM_011522537.2:c.4321C>A	XP_011520839.1:p.Leu1441Met
XM_024450298.1:c.7363C>A	XP_024306066.1:p.Leu2455Met
XM_024450299.1:c.7291C>A	XP_024306067.1:p.Leu2431Met
XM_024450300.1:c.7153C>A	XP_024306068.1:p.Leu2385Met
XM_024450301.1:c.5239C>A	XP_024306069.1:p.Leu1747Met
NM_000296.4:c.7243C>A	NP_000287.4:p.Leu2415Met
NM_001009944.3:c.7243C>A MANE Select	NP_001009944.3:p.Leu2415Met