Canonical Allele Identifier: CA394325608
Gene: PKD1 HGNC NCBI

Linked Data

gnomAD v4: 16-2090427-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090427A>G , CM000678.2:g.2090427A>G GRCh38
NC_000016.9:g.2140428A>G , CM000678.1:g.2140428A>G GRCh37
NC_000016.8:g.2080429A>G NCBI36
NG_005895.1:g.46122A>G , LRG_487:g.46122A>G
NG_008617.1:g.52794T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12302T>C MANE Select ENSP00000262304.4:p.Leu4101Pro
ENST00000262304.8:c.12302T>C ENSP00000262304.4:p.Leu4101Pro
ENST00000423118.5:c.12299T>C ENSP00000399501.1:p.Leu4100Pro
ENST00000472577.1:n.330T>C
NM_000296.3:c.12299T>C NP_000287.3:p.Leu4100Pro
NM_001009944.2:c.12302T>C NP_001009944.2:p.Leu4101Pro
XM_005255370.2:c.9257T>C XP_005255427.1:p.Leu3086Pro
XM_011522525.1:c.12380T>C XP_011520827.1:p.Leu4127Pro
XM_011522526.1:c.12377T>C XP_011520828.1:p.Leu4126Pro
XM_011522527.1:c.12362T>C XP_011520829.1:p.Leu4121Pro
XM_011522528.1:c.12356T>C XP_011520830.1:p.Leu4119Pro
XM_011522529.1:c.12353T>C XP_011520831.1:p.Leu4118Pro
XM_011522530.1:c.12326T>C XP_011520832.1:p.Leu4109Pro
XM_011522531.1:c.12308T>C XP_011520833.1:p.Leu4103Pro
XM_011522532.1:c.12254T>C XP_011520834.1:p.Leu4085Pro
XM_011522533.1:c.12173T>C XP_011520835.1:p.Leu4058Pro
XM_011522534.1:c.12116T>C XP_011520836.1:p.Leu4039Pro
XM_011522535.1:c.10202T>C XP_011520837.1:p.Leu3401Pro
XM_011522537.1:c.9380T>C XP_011520839.1:p.Leu3127Pro
XR_932867.1:n.12220T>C
XM_005255370.3:c.9257T>C XP_005255427.1:p.Leu3086Pro
XM_011522528.3:c.12356T>C XP_011520830.1:p.Leu4119Pro
XM_011522529.2:c.12353T>C XP_011520831.1:p.Leu4118Pro
XM_011522537.2:c.9380T>C XP_011520839.1:p.Leu3127Pro
XM_024450298.1:c.12422T>C XP_024306066.1:p.Leu4141Pro
XM_024450299.1:c.12350T>C XP_024306067.1:p.Leu4117Pro
XM_024450300.1:c.12212T>C XP_024306068.1:p.Leu4071Pro
XM_024450301.1:c.10298T>C XP_024306069.1:p.Leu3433Pro
NM_000296.4:c.12299T>C NP_000287.4:p.Leu4100Pro
NM_001009944.3:c.12302T>C MANE Select NP_001009944.3:p.Leu4101Pro