Canonical Allele Identifier: CA394324476
Community Standard Title: NM_001009944.3(PKD1):c.12444+1G>A
Gene: PKD1 HGNC NCBI
MIR1225 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090284C>T , CM000678.2:g.2090284C>T GRCh38
NC_000016.9:g.2140285C>T , CM000678.1:g.2140285C>T GRCh37
NC_000016.8:g.2080286C>T NCBI36
NG_005895.1:g.45979C>T , LRG_487:g.45979C>T
NG_008617.1:g.52937G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.12444+1G>A (PKD1) MANE Select NP_001009944.3:n.12444+1G>A
ENST00000262304.9:c.12444+1G>A (PKD1) MANE Select ENSP00000262304.4:n.12444+1G>A
NM_000296.3:c.12441+1G>A (PKD1) NP_000287.3:n.12441+1G>A
NM_000296.4:c.12441+1G>A (PKD1) NP_000287.4:n.12441+1G>A
NM_001009944.2:c.12444+1G>A (PKD1) NP_001009944.2:n.12444+1G>A
NR_030646.1:n.1G>A (MIR1225)
ENST00000262304.8:c.12444+1G>A (PKD1) ENSP00000262304.4:n.12444+1G>A
ENST00000423118.5:c.12441+1G>A (PKD1) ENSP00000399501.1:n.12441+1G>A
ENST00000472577.1:n.472+1G>A (PKD1)
XM_005255370.2:c.9399+1G>A (PKD1) XP_005255427.1:n.9399+1G>A
XM_005255370.3:c.9399+1G>A (PKD1) XP_005255427.1:n.9399+1G>A
XM_011522525.1:c.12522+1G>A (PKD1) XP_011520827.1:n.12522+1G>A
XM_011522526.1:c.12519+1G>A (PKD1) XP_011520828.1:n.12519+1G>A
XM_011522527.1:c.12504+1G>A (PKD1) XP_011520829.1:n.12504+1G>A
XM_011522528.1:c.12498+1G>A (PKD1) XP_011520830.1:n.12498+1G>A
XM_011522528.3:c.12498+1G>A (PKD1) XP_011520830.1:n.12498+1G>A
XM_011522529.1:c.12495+1G>A (PKD1) XP_011520831.1:n.12495+1G>A
XM_011522529.2:c.12495+1G>A (PKD1) XP_011520831.1:n.12495+1G>A
XM_011522530.1:c.12468+1G>A (PKD1) XP_011520832.1:n.12468+1G>A
XM_011522531.1:c.12450+1G>A (PKD1) XP_011520833.1:n.12450+1G>A
XM_011522532.1:c.12396+1G>A (PKD1) XP_011520834.1:n.12396+1G>A
XM_011522533.1:c.12315+1G>A (PKD1) XP_011520835.1:n.12315+1G>A
XM_011522534.1:c.12258+1G>A (PKD1) XP_011520836.1:n.12258+1G>A
XM_011522535.1:c.10344+1G>A (PKD1) XP_011520837.1:n.10344+1G>A
XM_011522537.1:c.9522+1G>A (PKD1) XP_011520839.1:n.9522+1G>A
XM_011522537.2:c.9522+1G>A (PKD1) XP_011520839.1:n.9522+1G>A
XM_024450298.1:c.12564+1G>A (PKD1) XP_024306066.1:n.12564+1G>A
XM_024450299.1:c.12492+1G>A (PKD1) XP_024306067.1:n.12492+1G>A
XM_024450300.1:c.12354+1G>A (PKD1) XP_024306068.1:n.12354+1G>A
XM_024450301.1:c.10440+1G>A (PKD1) XP_024306069.1:n.10440+1G>A
XR_932867.1:n.12362+1G>A (PKD1)