Canonical Allele Identifier: CA7829658
Community Standard Title: NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2097399G>A , CM000678.2:g.2097399G>A GRCh38
NC_000016.9:g.2147400G>A , CM000678.1:g.2147400G>A GRCh37
NC_000016.8:g.2087401G>A NCBI36
NG_008617.1:g.45822C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.10325C>T MANE Select NP_001009944.3:p.Ala3442Val
ENST00000262304.9:c.10325C>T MANE Select ENSP00000262304.4:p.Ala3442Val
NM_000296.3:c.10322C>T NP_000287.3:p.Ala3441Val
NM_000296.4:c.10322C>T NP_000287.4:p.Ala3441Val
NM_001009944.2:c.10325C>T NP_001009944.2:p.Ala3442Val
ENST00000262304.8:c.10325C>T ENSP00000262304.4:p.Ala3442Val
ENST00000423118.5:c.10322C>T ENSP00000399501.1:p.Ala3441Val
ENST00000487932.5:c.4887C>T ENSP00000457132.1:n.4887C>T
XM_005255370.2:c.7280C>T XP_005255427.1:p.Ala2427Val
XM_005255370.3:c.7280C>T XP_005255427.1:p.Ala2427Val
XM_011522525.1:c.10403C>T XP_011520827.1:p.Ala3468Val
XM_011522526.1:c.10400C>T XP_011520828.1:p.Ala3467Val
XM_011522527.1:c.10385C>T XP_011520829.1:p.Ala3462Val
XM_011522528.1:c.10379C>T XP_011520830.1:p.Ala3460Val
XM_011522528.3:c.10379C>T XP_011520830.1:p.Ala3460Val
XM_011522529.1:c.10376C>T XP_011520831.1:p.Ala3459Val
XM_011522529.2:c.10376C>T XP_011520831.1:p.Ala3459Val
XM_011522530.1:c.10349C>T XP_011520832.1:p.Ala3450Val
XM_011522531.1:c.10331C>T XP_011520833.1:p.Ala3444Val
XM_011522532.1:c.10277C>T XP_011520834.1:p.Ala3426Val
XM_011522533.1:c.10196C>T XP_011520835.1:p.Ala3399Val
XM_011522534.1:c.10139C>T XP_011520836.1:p.Ala3380Val
XM_011522535.1:c.8225C>T XP_011520837.1:p.Ala2742Val
XM_011522537.1:c.7403C>T XP_011520839.1:p.Ala2468Val
XM_011522537.2:c.7403C>T XP_011520839.1:p.Ala2468Val
XM_024450298.1:c.10445C>T XP_024306066.1:p.Ala3482Val
XM_024450299.1:c.10373C>T XP_024306067.1:p.Ala3458Val
XM_024450300.1:c.10235C>T XP_024306068.1:p.Ala3412Val
XM_024450301.1:c.8321C>T XP_024306069.1:p.Ala2774Val
XR_932867.1:n.10418C>T
XR_932868.1:n.10418C>T
XR_932869.1:n.10418C>T
XR_932870.1:n.10418C>T