Canonical Allele Identifier: CA394320918
Community Standard Title: NM_001009944.3(PKD1):c.12683G>T (p.Arg4228Leu)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2089956C>A , CM000678.2:g.2089956C>A GRCh38
NC_000016.9:g.2139957C>A , CM000678.1:g.2139957C>A GRCh37
NC_000016.8:g.2079958C>A NCBI36
NG_005895.1:g.45651C>A , LRG_487:g.45651C>A
NG_008617.1:g.53265G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.12683G>T MANE Select NP_001009944.3:p.Arg4228Leu
ENST00000262304.9:c.12683G>T MANE Select ENSP00000262304.4:p.Arg4228Leu
NM_000296.3:c.12680G>T NP_000287.3:p.Arg4227Leu
NM_000296.4:c.12680G>T NP_000287.4:p.Arg4227Leu
NM_001009944.2:c.12683G>T NP_001009944.2:p.Arg4228Leu
ENST00000262304.8:c.12683G>T ENSP00000262304.4:p.Arg4228Leu
ENST00000423118.5:c.12680G>T ENSP00000399501.1:p.Arg4227Leu
ENST00000472577.1:n.711G>T
XM_005255370.2:c.9638G>T XP_005255427.1:p.Arg3213Leu
XM_005255370.3:c.9638G>T XP_005255427.1:p.Arg3213Leu
XM_011522525.1:c.12761G>T XP_011520827.1:p.Arg4254Leu
XM_011522526.1:c.12758G>T XP_011520828.1:p.Arg4253Leu
XM_011522527.1:c.12743G>T XP_011520829.1:p.Arg4248Leu
XM_011522528.1:c.12737G>T XP_011520830.1:p.Arg4246Leu
XM_011522528.3:c.12737G>T XP_011520830.1:p.Arg4246Leu
XM_011522529.1:c.12734G>T XP_011520831.1:p.Arg4245Leu
XM_011522529.2:c.12734G>T XP_011520831.1:p.Arg4245Leu
XM_011522530.1:c.12707G>T XP_011520832.1:p.Arg4236Leu
XM_011522531.1:c.12689G>T XP_011520833.1:p.Arg4230Leu
XM_011522532.1:c.12635G>T XP_011520834.1:p.Arg4212Leu
XM_011522533.1:c.12554G>T XP_011520835.1:p.Arg4185Leu
XM_011522534.1:c.12497G>T XP_011520836.1:p.Arg4166Leu
XM_011522535.1:c.10583G>T XP_011520837.1:p.Arg3528Leu
XM_011522537.1:c.9761G>T XP_011520839.1:p.Arg3254Leu
XM_011522537.2:c.9761G>T XP_011520839.1:p.Arg3254Leu
XM_024450298.1:c.12803G>T XP_024306066.1:p.Arg4268Leu
XM_024450299.1:c.12731G>T XP_024306067.1:p.Arg4244Leu
XM_024450300.1:c.12593G>T XP_024306068.1:p.Arg4198Leu
XM_024450301.1:c.10679G>T XP_024306069.1:p.Arg3560Leu
XR_932867.1:n.12601G>T