Canonical Allele Identifier: CA394355381
Community Standard Title: NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100267T>C , CM000678.2:g.2100267T>C GRCh38
NC_000016.9:g.2150268T>C , CM000678.1:g.2150268T>C GRCh37
NC_000016.8:g.2090269T>C NCBI36
NG_008617.1:g.42954A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.9611A>G MANE Select NP_001009944.3:p.Asp3204Gly
ENST00000262304.9:c.9611A>G MANE Select ENSP00000262304.4:p.Asp3204Gly
NM_000296.3:c.9611A>G NP_000287.3:p.Asp3204Gly
NM_000296.4:c.9611A>G NP_000287.4:p.Asp3204Gly
NM_001009944.2:c.9611A>G NP_001009944.2:p.Asp3204Gly
ENST00000262304.8:c.9611A>G ENSP00000262304.4:p.Asp3204Gly
ENST00000415938.7:n.2690A>G
ENST00000423118.5:c.9611A>G ENSP00000399501.1:p.Asp3204Gly
ENST00000469851.1:n.420A>G
ENST00000471603.6:n.1255A>G
ENST00000480227.5:n.1348A>G
ENST00000483731.5:n.3497A>G
ENST00000483814.1:n.413A>G
ENST00000486339.6:n.3747A>G
ENST00000487932.5:c.4173A>G ENSP00000457132.1:n.4173A>G
ENST00000496574.6:n.3847A>G
ENST00000562297.5:n.1344A>G
ENST00000566905.5:n.101A>G
ENST00000567946.1:c.1213A>G
ENST00000570193.5:n.55A>G
ENST00000570253.5:n.34A>G
XM_005255370.2:c.6566A>G XP_005255427.1:p.Asp2189Gly
XM_005255370.3:c.6566A>G XP_005255427.1:p.Asp2189Gly
XM_011522525.1:c.9689A>G XP_011520827.1:p.Asp3230Gly
XM_011522526.1:c.9689A>G XP_011520828.1:p.Asp3230Gly
XM_011522527.1:c.9671A>G XP_011520829.1:p.Asp3224Gly
XM_011522528.1:c.9665A>G XP_011520830.1:p.Asp3222Gly
XM_011522528.3:c.9665A>G XP_011520830.1:p.Asp3222Gly
XM_011522529.1:c.9665A>G XP_011520831.1:p.Asp3222Gly
XM_011522529.2:c.9665A>G XP_011520831.1:p.Asp3222Gly
XM_011522530.1:c.9635A>G XP_011520832.1:p.Asp3212Gly
XM_011522531.1:c.9617A>G XP_011520833.1:p.Asp3206Gly
XM_011522532.1:c.9563A>G XP_011520834.1:p.Asp3188Gly
XM_011522533.1:c.9482A>G XP_011520835.1:p.Asp3161Gly
XM_011522534.1:c.9425A>G XP_011520836.1:p.Asp3142Gly
XM_011522535.1:c.7511A>G XP_011520837.1:p.Asp2504Gly
XM_011522536.1:c.9689A>G XP_011520838.1:p.Asp3230Gly
XM_011522537.1:c.6689A>G XP_011520839.1:p.Asp2230Gly
XM_011522537.2:c.6689A>G XP_011520839.1:p.Asp2230Gly
XM_024450298.1:c.9731A>G XP_024306066.1:p.Asp3244Gly
XM_024450299.1:c.9659A>G XP_024306067.1:p.Asp3220Gly
XM_024450300.1:c.9521A>G XP_024306068.1:p.Asp3174Gly
XM_024450301.1:c.7607A>G XP_024306069.1:p.Asp2536Gly
XR_932867.1:n.9704A>G
XR_932868.1:n.9704A>G
XR_932869.1:n.9704A>G
XR_932870.1:n.9704A>G