Canonical Allele Identifier: CA394326299
Gene: PKD1 HGNC NCBI

Linked Data

gnomAD v4: 16-2090518-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090518G>T , CM000678.2:g.2090518G>T GRCh38
NC_000016.9:g.2140519G>T , CM000678.1:g.2140519G>T GRCh37
NC_000016.8:g.2080520G>T NCBI36
NG_005895.1:g.46213G>T , LRG_487:g.46213G>T
NG_008617.1:g.52703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12211C>A MANE Select ENSP00000262304.4:p.Leu4071Ile
ENST00000262304.8:c.12211C>A ENSP00000262304.4:p.Leu4071Ile
ENST00000423118.5:c.12208C>A ENSP00000399501.1:p.Leu4070Ile
ENST00000472577.1:n.239C>A
NM_000296.3:c.12208C>A NP_000287.3:p.Leu4070Ile
NM_001009944.2:c.12211C>A NP_001009944.2:p.Leu4071Ile
XM_005255370.2:c.9166C>A XP_005255427.1:p.Leu3056Ile
XM_011522525.1:c.12289C>A XP_011520827.1:p.Leu4097Ile
XM_011522526.1:c.12286C>A XP_011520828.1:p.Leu4096Ile
XM_011522527.1:c.12271C>A XP_011520829.1:p.Leu4091Ile
XM_011522528.1:c.12265C>A XP_011520830.1:p.Leu4089Ile
XM_011522529.1:c.12262C>A XP_011520831.1:p.Leu4088Ile
XM_011522530.1:c.12235C>A XP_011520832.1:p.Leu4079Ile
XM_011522531.1:c.12217C>A XP_011520833.1:p.Leu4073Ile
XM_011522532.1:c.12163C>A XP_011520834.1:p.Leu4055Ile
XM_011522533.1:c.12082C>A XP_011520835.1:p.Leu4028Ile
XM_011522534.1:c.12025C>A XP_011520836.1:p.Leu4009Ile
XM_011522535.1:c.10111C>A XP_011520837.1:p.Leu3371Ile
XM_011522537.1:c.9289C>A XP_011520839.1:p.Leu3097Ile
XR_932867.1:n.12129C>A
XM_005255370.3:c.9166C>A XP_005255427.1:p.Leu3056Ile
XM_011522528.3:c.12265C>A XP_011520830.1:p.Leu4089Ile
XM_011522529.2:c.12262C>A XP_011520831.1:p.Leu4088Ile
XM_011522537.2:c.9289C>A XP_011520839.1:p.Leu3097Ile
XM_024450298.1:c.12331C>A XP_024306066.1:p.Leu4111Ile
XM_024450299.1:c.12259C>A XP_024306067.1:p.Leu4087Ile
XM_024450300.1:c.12121C>A XP_024306068.1:p.Leu4041Ile
XM_024450301.1:c.10207C>A XP_024306069.1:p.Leu3403Ile
NM_000296.4:c.12208C>A NP_000287.4:p.Leu4070Ile
NM_001009944.3:c.12211C>A MANE Select NP_001009944.3:p.Leu4071Ile