Canonical Allele Identifier: CA7830720
Community Standard Title: NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2104548G>A , CM000678.2:g.2104548G>A GRCh38
NC_000016.9:g.2154549G>A , CM000678.1:g.2154549G>A GRCh37
NC_000016.8:g.2094550G>A NCBI36
NG_008617.1:g.38673C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.8111C>T MANE Select NP_001009944.3:p.Ala2704Val
ENST00000262304.9:c.8111C>T MANE Select ENSP00000262304.4:p.Ala2704Val
NM_000296.3:c.8111C>T NP_000287.3:p.Ala2704Val
NM_000296.4:c.8111C>T NP_000287.4:p.Ala2704Val
NM_001009944.2:c.8111C>T NP_001009944.2:p.Ala2704Val
ENST00000262304.8:c.8111C>T ENSP00000262304.4:p.Ala2704Val
ENST00000415938.7:n.1356C>T
ENST00000423118.5:c.8111C>T ENSP00000399501.1:p.Ala2704Val
ENST00000483731.5:n.1836C>T
ENST00000486339.6:n.2247C>T
ENST00000487932.5:c.2798C>T ENSP00000457132.1:p.Ala933Val
ENST00000496574.6:n.2347C>T
ENST00000561991.5:n.633C>T
ENST00000565639.6:n.1819C>T
ENST00000567946.1:c.172C>T
XM_005255370.2:c.5066C>T XP_005255427.1:p.Ala1689Val
XM_005255370.3:c.5066C>T XP_005255427.1:p.Ala1689Val
XM_011522525.1:c.8189C>T XP_011520827.1:p.Ala2730Val
XM_011522526.1:c.8189C>T XP_011520828.1:p.Ala2730Val
XM_011522527.1:c.8189C>T XP_011520829.1:p.Ala2730Val
XM_011522528.1:c.8165C>T XP_011520830.1:p.Ala2722Val
XM_011522528.3:c.8165C>T XP_011520830.1:p.Ala2722Val
XM_011522529.1:c.8165C>T XP_011520831.1:p.Ala2722Val
XM_011522529.2:c.8165C>T XP_011520831.1:p.Ala2722Val
XM_011522530.1:c.8135C>T XP_011520832.1:p.Ala2712Val
XM_011522531.1:c.8117C>T XP_011520833.1:p.Ala2706Val
XM_011522532.1:c.8063C>T XP_011520834.1:p.Ala2688Val
XM_011522533.1:c.7982C>T XP_011520835.1:p.Ala2661Val
XM_011522534.1:c.7925C>T XP_011520836.1:p.Ala2642Val
XM_011522535.1:c.6011C>T XP_011520837.1:p.Ala2004Val
XM_011522536.1:c.8189C>T XP_011520838.1:p.Ala2730Val
XM_011522537.1:c.5189C>T XP_011520839.1:p.Ala1730Val
XM_011522537.2:c.5189C>T XP_011520839.1:p.Ala1730Val
XM_024450298.1:c.8231C>T XP_024306066.1:p.Ala2744Val
XM_024450299.1:c.8159C>T XP_024306067.1:p.Ala2720Val
XM_024450300.1:c.8021C>T XP_024306068.1:p.Ala2674Val
XM_024450301.1:c.6107C>T XP_024306069.1:p.Ala2036Val
XR_932867.1:n.8204C>T
XR_932868.1:n.8204C>T
XR_932869.1:n.8204C>T
XR_932870.1:n.8204C>T