Canonical Allele Identifier: CA394344432
Community Standard Title: NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2097185G>A , CM000678.2:g.2097185G>A GRCh38
NC_000016.9:g.2147186G>A , CM000678.1:g.2147186G>A GRCh37
NC_000016.8:g.2087187G>A NCBI36
NG_008617.1:g.46036C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.10462C>T MANE Select NP_001009944.3:p.Gln3488Ter
ENST00000262304.9:c.10462C>T MANE Select ENSP00000262304.4:p.Gln3488Ter
NM_000296.3:c.10459C>T NP_000287.3:p.Gln3487Ter
NM_000296.4:c.10459C>T NP_000287.4:p.Gln3487Ter
NM_001009944.2:c.10462C>T NP_001009944.2:p.Gln3488Ter
ENST00000262304.8:c.10462C>T ENSP00000262304.4:p.Gln3488Ter
ENST00000423118.5:c.10459C>T ENSP00000399501.1:p.Gln3487Ter
ENST00000487932.5:c.5024C>T ENSP00000457132.1:n.5024C>T
XM_005255370.2:c.7417C>T XP_005255427.1:p.Gln2473Ter
XM_005255370.3:c.7417C>T XP_005255427.1:p.Gln2473Ter
XM_011522525.1:c.10540C>T XP_011520827.1:p.Gln3514Ter
XM_011522526.1:c.10537C>T XP_011520828.1:p.Gln3513Ter
XM_011522527.1:c.10522C>T XP_011520829.1:p.Gln3508Ter
XM_011522528.1:c.10516C>T XP_011520830.1:p.Gln3506Ter
XM_011522528.3:c.10516C>T XP_011520830.1:p.Gln3506Ter
XM_011522529.1:c.10513C>T XP_011520831.1:p.Gln3505Ter
XM_011522529.2:c.10513C>T XP_011520831.1:p.Gln3505Ter
XM_011522530.1:c.10486C>T XP_011520832.1:p.Gln3496Ter
XM_011522531.1:c.10468C>T XP_011520833.1:p.Gln3490Ter
XM_011522532.1:c.10414C>T XP_011520834.1:p.Gln3472Ter
XM_011522533.1:c.10333C>T XP_011520835.1:p.Gln3445Ter
XM_011522534.1:c.10276C>T XP_011520836.1:p.Gln3426Ter
XM_011522535.1:c.8362C>T XP_011520837.1:p.Gln2788Ter
XM_011522537.1:c.7540C>T XP_011520839.1:p.Gln2514Ter
XM_011522537.2:c.7540C>T XP_011520839.1:p.Gln2514Ter
XM_024450298.1:c.10582C>T XP_024306066.1:p.Gln3528Ter
XM_024450299.1:c.10510C>T XP_024306067.1:p.Gln3504Ter
XM_024450300.1:c.10372C>T XP_024306068.1:p.Gln3458Ter
XM_024450301.1:c.8458C>T XP_024306069.1:p.Gln2820Ter
XR_932867.1:n.10555C>T
XR_932868.1:n.10555C>T
XR_932869.1:n.10555C>T
XR_932870.1:n.10555C>T