Canonical Allele Identifier: CA2573050757
Community Standard Title: NM_001009944.3(PKD1):c.11017-25A>G
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2093118T>C , CM000678.2:g.2093118T>C GRCh38
NC_000016.9:g.2143119T>C , CM000678.1:g.2143119T>C GRCh37
NC_000016.8:g.2083120T>C NCBI36
NG_008617.1:g.50103A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.11017-25A>G (PKD1) MANE Select NP_001009944.3:n.11017-25A>G
ENST00000262304.9:c.11017-25A>G (PKD1) MANE Select ENSP00000262304.4:n.11017-25A>G
NM_000296.3:c.11014-25A>G (PKD1) NP_000287.3:n.11014-25A>G
NM_000296.4:c.11014-25A>G (PKD1) NP_000287.4:n.11014-25A>G
NM_001009944.2:c.11017-25A>G (PKD1) NP_001009944.2:n.11017-25A>G
NR_135175.1:n.303+106T>C (PKD1-AS1)
ENST00000262304.8:c.11017-25A>G (PKD1) ENSP00000262304.4:n.11017-25A>G
ENST00000423118.5:c.11014-25A>G (PKD1) ENSP00000399501.1:n.11014-25A>G
ENST00000472659.1:n.454-25A>G (PKD1)
ENST00000487932.5:c.5579-25A>G (PKD1) ENSP00000457132.1:n.5579-25A>G
ENST00000562425.1:c.269+426A>G (PKD1)
XM_005255370.2:c.7972-25A>G (PKD1) XP_005255427.1:n.7972-25A>G
XM_005255370.3:c.7972-25A>G (PKD1) XP_005255427.1:n.7972-25A>G
XM_011522525.1:c.11095-25A>G (PKD1) XP_011520827.1:n.11095-25A>G
XM_011522526.1:c.11092-25A>G (PKD1) XP_011520828.1:n.11092-25A>G
XM_011522527.1:c.11077-25A>G (PKD1) XP_011520829.1:n.11077-25A>G
XM_011522528.1:c.11071-25A>G (PKD1) XP_011520830.1:n.11071-25A>G
XM_011522528.3:c.11071-25A>G (PKD1) XP_011520830.1:n.11071-25A>G
XM_011522529.1:c.11068-25A>G (PKD1) XP_011520831.1:n.11068-25A>G
XM_011522529.2:c.11068-25A>G (PKD1) XP_011520831.1:n.11068-25A>G
XM_011522530.1:c.11041-25A>G (PKD1) XP_011520832.1:n.11041-25A>G
XM_011522531.1:c.11023-25A>G (PKD1) XP_011520833.1:n.11023-25A>G
XM_011522532.1:c.10969-25A>G (PKD1) XP_011520834.1:n.10969-25A>G
XM_011522533.1:c.10888-25A>G (PKD1) XP_011520835.1:n.10888-25A>G
XM_011522534.1:c.10831-25A>G (PKD1) XP_011520836.1:n.10831-25A>G
XM_011522535.1:c.8917-25A>G (PKD1) XP_011520837.1:n.8917-25A>G
XM_011522537.1:c.8095-25A>G (PKD1) XP_011520839.1:n.8095-25A>G
XM_011522537.2:c.8095-25A>G (PKD1) XP_011520839.1:n.8095-25A>G
XM_024450298.1:c.11137-25A>G (PKD1) XP_024306066.1:n.11137-25A>G
XM_024450299.1:c.11065-25A>G (PKD1) XP_024306067.1:n.11065-25A>G
XM_024450300.1:c.10927-25A>G (PKD1) XP_024306068.1:n.10927-25A>G
XM_024450301.1:c.9013-25A>G (PKD1) XP_024306069.1:n.9013-25A>G
XR_932867.1:n.11110-25A>G (PKD1)
XR_932868.1:n.11109+426A>G (PKD1)
XR_932869.1:n.11109+426A>G (PKD1)
XR_932870.1:n.11109+426A>G (PKD1)
XR_933000.1:n.213+106T>C (PKD1-AS1)
XR_933001.1:n.303+106T>C (PKD1-AS1)
XR_933002.1:n.212+106T>C (PKD1-AS1)
XR_933003.1:n.212+106T>C (PKD1-AS1)