Canonical Allele Identifier: CA7829902
Community Standard Title: NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2099911G>C , CM000678.2:g.2099911G>C GRCh38
NC_000016.9:g.2149912G>C , CM000678.1:g.2149912G>C GRCh37
NC_000016.8:g.2089913G>C NCBI36
NG_008617.1:g.43310C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9873C>G MANE Select NP_001009944.3:p.Phe3291Leu
ENST00000262304.9:c.9873C>G MANE Select ENSP00000262304.4:p.Phe3291Leu
NM_000296.3:c.9873C>G NP_000287.3:p.Phe3291Leu
NM_000296.4:c.9873C>G NP_000287.4:p.Phe3291Leu
NM_001009944.2:c.9873C>G NP_001009944.2:p.Phe3291Leu
ENST00000262304.8:c.9873C>G ENSP00000262304.4:p.Phe3291Leu
ENST00000415938.7:n.2952C>G
ENST00000423118.5:c.9873C>G ENSP00000399501.1:p.Phe3291Leu
ENST00000471603.6:n.1517C>G
ENST00000480227.5:n.1610C>G
ENST00000483731.5:n.3759C>G
ENST00000486339.6:n.4009C>G
ENST00000487932.5:c.4435C>G ENSP00000457132.1:n.4435C>G
ENST00000496574.6:n.4109C>G
ENST00000562297.5:n.1606C>G
ENST00000566905.5:n.363C>G
ENST00000567946.1:c.1475C>G
ENST00000570193.5:n.317C>G
ENST00000570253.5:n.296C>G
XM_005255370.2:c.6828C>G XP_005255427.1:p.Phe2276Leu
XM_005255370.3:c.6828C>G XP_005255427.1:p.Phe2276Leu
XM_011522525.1:c.9951C>G XP_011520827.1:p.Phe3317Leu
XM_011522526.1:c.9951C>G XP_011520828.1:p.Phe3317Leu
XM_011522527.1:c.9933C>G XP_011520829.1:p.Phe3311Leu
XM_011522528.1:c.9927C>G XP_011520830.1:p.Phe3309Leu
XM_011522528.3:c.9927C>G XP_011520830.1:p.Phe3309Leu
XM_011522529.1:c.9927C>G XP_011520831.1:p.Phe3309Leu
XM_011522529.2:c.9927C>G XP_011520831.1:p.Phe3309Leu
XM_011522530.1:c.9897C>G XP_011520832.1:p.Phe3299Leu
XM_011522531.1:c.9879C>G XP_011520833.1:p.Phe3293Leu
XM_011522532.1:c.9825C>G XP_011520834.1:p.Phe3275Leu
XM_011522533.1:c.9744C>G XP_011520835.1:p.Phe3248Leu
XM_011522534.1:c.9687C>G XP_011520836.1:p.Phe3229Leu
XM_011522535.1:c.7773C>G XP_011520837.1:p.Phe2591Leu
XM_011522536.1:c.9951C>G XP_011520838.1:p.Phe3317Leu
XM_011522537.1:c.6951C>G XP_011520839.1:p.Phe2317Leu
XM_011522537.2:c.6951C>G XP_011520839.1:p.Phe2317Leu
XM_024450298.1:c.9993C>G XP_024306066.1:p.Phe3331Leu
XM_024450299.1:c.9921C>G XP_024306067.1:p.Phe3307Leu
XM_024450300.1:c.9783C>G XP_024306068.1:p.Phe3261Leu
XM_024450301.1:c.7869C>G XP_024306069.1:p.Phe2623Leu
XR_932867.1:n.9966C>G
XR_932868.1:n.9966C>G
XR_932869.1:n.9966C>G
XR_932870.1:n.9966C>G