Canonical Allele Identifier: CA394325658
Gene: PKD1 HGNC NCBI

Linked Data

gnomAD v4: 16-2090437-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090437C>A , CM000678.2:g.2090437C>A GRCh38
NC_000016.9:g.2140438C>A , CM000678.1:g.2140438C>A GRCh37
NC_000016.8:g.2080439C>A NCBI36
NG_005895.1:g.46132C>A , LRG_487:g.46132C>A
NG_008617.1:g.52784G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12292G>T MANE Select ENSP00000262304.4:p.Ala4098Ser
ENST00000262304.8:c.12292G>T ENSP00000262304.4:p.Ala4098Ser
ENST00000423118.5:c.12289G>T ENSP00000399501.1:p.Ala4097Ser
ENST00000472577.1:n.320G>T
NM_000296.3:c.12289G>T NP_000287.3:p.Ala4097Ser
NM_001009944.2:c.12292G>T NP_001009944.2:p.Ala4098Ser
XM_005255370.2:c.9247G>T XP_005255427.1:p.Ala3083Ser
XM_011522525.1:c.12370G>T XP_011520827.1:p.Ala4124Ser
XM_011522526.1:c.12367G>T XP_011520828.1:p.Ala4123Ser
XM_011522527.1:c.12352G>T XP_011520829.1:p.Ala4118Ser
XM_011522528.1:c.12346G>T XP_011520830.1:p.Ala4116Ser
XM_011522529.1:c.12343G>T XP_011520831.1:p.Ala4115Ser
XM_011522530.1:c.12316G>T XP_011520832.1:p.Ala4106Ser
XM_011522531.1:c.12298G>T XP_011520833.1:p.Ala4100Ser
XM_011522532.1:c.12244G>T XP_011520834.1:p.Ala4082Ser
XM_011522533.1:c.12163G>T XP_011520835.1:p.Ala4055Ser
XM_011522534.1:c.12106G>T XP_011520836.1:p.Ala4036Ser
XM_011522535.1:c.10192G>T XP_011520837.1:p.Ala3398Ser
XM_011522537.1:c.9370G>T XP_011520839.1:p.Ala3124Ser
XR_932867.1:n.12210G>T
XM_005255370.3:c.9247G>T XP_005255427.1:p.Ala3083Ser
XM_011522528.3:c.12346G>T XP_011520830.1:p.Ala4116Ser
XM_011522529.2:c.12343G>T XP_011520831.1:p.Ala4115Ser
XM_011522537.2:c.9370G>T XP_011520839.1:p.Ala3124Ser
XM_024450298.1:c.12412G>T XP_024306066.1:p.Ala4138Ser
XM_024450299.1:c.12340G>T XP_024306067.1:p.Ala4114Ser
XM_024450300.1:c.12202G>T XP_024306068.1:p.Ala4068Ser
XM_024450301.1:c.10288G>T XP_024306069.1:p.Ala3430Ser
NM_000296.4:c.12289G>T NP_000287.4:p.Ala4097Ser
NM_001009944.3:c.12292G>T MANE Select NP_001009944.3:p.Ala4098Ser