Canonical Allele Identifier: CA16620107
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2097227G>A , CM000678.2:g.2097227G>A GRCh38
NC_000016.9:g.2147228G>A , CM000678.1:g.2147228G>A GRCh37
NC_000016.8:g.2087229G>A NCBI36
NG_008617.1:g.45994C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10420C>T MANE Select ENSP00000262304.4:p.Gln3474Ter
ENST00000262304.8:c.10420C>T ENSP00000262304.4:p.Gln3474Ter
ENST00000423118.5:c.10417C>T ENSP00000399501.1:p.Gln3473Ter
ENST00000487932.5:c.4982C>T ENSP00000457132.1:n.4982C>T
NM_000296.3:c.10417C>T NP_000287.3:p.Gln3473Ter
NM_001009944.2:c.10420C>T NP_001009944.2:p.Gln3474Ter
XM_005255370.2:c.7375C>T XP_005255427.1:p.Gln2459Ter
XM_011522525.1:c.10498C>T XP_011520827.1:p.Gln3500Ter
XM_011522526.1:c.10495C>T XP_011520828.1:p.Gln3499Ter
XM_011522527.1:c.10480C>T XP_011520829.1:p.Gln3494Ter
XM_011522528.1:c.10474C>T XP_011520830.1:p.Gln3492Ter
XM_011522529.1:c.10471C>T XP_011520831.1:p.Gln3491Ter
XM_011522530.1:c.10444C>T XP_011520832.1:p.Gln3482Ter
XM_011522531.1:c.10426C>T XP_011520833.1:p.Gln3476Ter
XM_011522532.1:c.10372C>T XP_011520834.1:p.Gln3458Ter
XM_011522533.1:c.10291C>T XP_011520835.1:p.Gln3431Ter
XM_011522534.1:c.10234C>T XP_011520836.1:p.Gln3412Ter
XM_011522535.1:c.8320C>T XP_011520837.1:p.Gln2774Ter
XM_011522537.1:c.7498C>T XP_011520839.1:p.Gln2500Ter
XR_932867.1:n.10513C>T
XR_932868.1:n.10513C>T
XR_932869.1:n.10513C>T
XR_932870.1:n.10513C>T
XM_005255370.3:c.7375C>T XP_005255427.1:p.Gln2459Ter
XM_011522528.3:c.10474C>T XP_011520830.1:p.Gln3492Ter
XM_011522529.2:c.10471C>T XP_011520831.1:p.Gln3491Ter
XM_011522537.2:c.7498C>T XP_011520839.1:p.Gln2500Ter
XM_024450298.1:c.10540C>T XP_024306066.1:p.Gln3514Ter
XM_024450299.1:c.10468C>T XP_024306067.1:p.Gln3490Ter
XM_024450300.1:c.10330C>T XP_024306068.1:p.Gln3444Ter
XM_024450301.1:c.8416C>T XP_024306069.1:p.Gln2806Ter
NM_000296.4:c.10417C>T NP_000287.4:p.Gln3473Ter
NM_001009944.3:c.10420C>T MANE Select NP_001009944.3:p.Gln3474Ter