Canonical Allele Identifier: CA394319572
Community Standard Title: NM_001009944.3(PKD1):c.12811C>T (p.Pro4271Ser)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2089828G>A , CM000678.2:g.2089828G>A GRCh38
NC_000016.9:g.2139829G>A , CM000678.1:g.2139829G>A GRCh37
NC_000016.8:g.2079830G>A NCBI36
NG_005895.1:g.45523G>A , LRG_487:g.45523G>A
NG_008617.1:g.53393C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.12811C>T MANE Select NP_001009944.3:p.Pro4271Ser
ENST00000262304.9:c.12811C>T MANE Select ENSP00000262304.4:p.Pro4271Ser
NM_000296.3:c.12808C>T NP_000287.3:p.Pro4270Ser
NM_000296.4:c.12808C>T NP_000287.4:p.Pro4270Ser
NM_001009944.2:c.12811C>T NP_001009944.2:p.Pro4271Ser
ENST00000262304.8:c.12811C>T ENSP00000262304.4:p.Pro4271Ser
ENST00000423118.5:c.12808C>T ENSP00000399501.1:p.Pro4270Ser
ENST00000472577.1:n.839C>T
XM_005255370.2:c.9766C>T XP_005255427.1:p.Pro3256Ser
XM_005255370.3:c.9766C>T XP_005255427.1:p.Pro3256Ser
XM_011522525.1:c.12889C>T XP_011520827.1:p.Pro4297Ser
XM_011522526.1:c.12886C>T XP_011520828.1:p.Pro4296Ser
XM_011522527.1:c.12871C>T XP_011520829.1:p.Pro4291Ser
XM_011522528.1:c.12865C>T XP_011520830.1:p.Pro4289Ser
XM_011522528.3:c.12865C>T XP_011520830.1:p.Pro4289Ser
XM_011522529.1:c.12862C>T XP_011520831.1:p.Pro4288Ser
XM_011522529.2:c.12862C>T XP_011520831.1:p.Pro4288Ser
XM_011522530.1:c.12835C>T XP_011520832.1:p.Pro4279Ser
XM_011522531.1:c.12817C>T XP_011520833.1:p.Pro4273Ser
XM_011522532.1:c.12763C>T XP_011520834.1:p.Pro4255Ser
XM_011522533.1:c.12682C>T XP_011520835.1:p.Pro4228Ser
XM_011522534.1:c.12625C>T XP_011520836.1:p.Pro4209Ser
XM_011522535.1:c.10711C>T XP_011520837.1:p.Pro3571Ser
XM_011522537.1:c.9889C>T XP_011520839.1:p.Pro3297Ser
XM_011522537.2:c.9889C>T XP_011520839.1:p.Pro3297Ser
XM_024450298.1:c.12931C>T XP_024306066.1:p.Pro4311Ser
XM_024450299.1:c.12859C>T XP_024306067.1:p.Pro4287Ser
XM_024450300.1:c.12721C>T XP_024306068.1:p.Pro4241Ser
XM_024450301.1:c.10807C>T XP_024306069.1:p.Pro3603Ser