Canonical Allele Identifier: CA394366215
Community Standard Title: NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2105435C>A , CM000678.2:g.2105435C>A GRCh38
NC_000016.9:g.2155436C>A , CM000678.1:g.2155436C>A GRCh37
NC_000016.8:g.2095437C>A NCBI36
NG_008617.1:g.35464G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.7903G>T MANE Select NP_001009944.3:p.Glu2635Ter
ENST00000262304.9:c.7903G>T MANE Select ENSP00000262304.4:p.Glu2635Ter
NM_000296.3:c.7903G>T NP_000287.3:p.Glu2635Ter
NM_000296.4:c.7903G>T NP_000287.4:p.Glu2635Ter
NM_001009944.2:c.7903G>T NP_001009944.2:p.Glu2635Ter
ENST00000262304.8:c.7903G>T ENSP00000262304.4:p.Glu2635Ter
ENST00000415938.7:n.1148G>T
ENST00000423118.5:c.7903G>T ENSP00000399501.1:p.Glu2635Ter
ENST00000483731.5:n.1628G>T
ENST00000486339.6:n.2039G>T
ENST00000487932.5:c.2590G>T ENSP00000457132.1:p.Glu864Ter
ENST00000496574.6:n.2139G>T
ENST00000561991.5:n.425G>T
ENST00000564865.5:n.402G>T
ENST00000564890.1:n.517G>T
ENST00000565639.6:n.1611G>T
XM_005255370.2:c.4858G>T XP_005255427.1:p.Glu1620Ter
XM_005255370.3:c.4858G>T XP_005255427.1:p.Glu1620Ter
XM_011522525.1:c.7981G>T XP_011520827.1:p.Glu2661Ter
XM_011522526.1:c.7981G>T XP_011520828.1:p.Glu2661Ter
XM_011522527.1:c.7981G>T XP_011520829.1:p.Glu2661Ter
XM_011522528.1:c.7957G>T XP_011520830.1:p.Glu2653Ter
XM_011522528.3:c.7957G>T XP_011520830.1:p.Glu2653Ter
XM_011522529.1:c.7957G>T XP_011520831.1:p.Glu2653Ter
XM_011522529.2:c.7957G>T XP_011520831.1:p.Glu2653Ter
XM_011522530.1:c.7927G>T XP_011520832.1:p.Glu2643Ter
XM_011522531.1:c.7909G>T XP_011520833.1:p.Glu2637Ter
XM_011522532.1:c.7855G>T XP_011520834.1:p.Glu2619Ter
XM_011522533.1:c.7774G>T XP_011520835.1:p.Glu2592Ter
XM_011522534.1:c.7717G>T XP_011520836.1:p.Glu2573Ter
XM_011522535.1:c.5803G>T XP_011520837.1:p.Glu1935Ter
XM_011522536.1:c.7981G>T XP_011520838.1:p.Glu2661Ter
XM_011522537.1:c.4981G>T XP_011520839.1:p.Glu1661Ter
XM_011522537.2:c.4981G>T XP_011520839.1:p.Glu1661Ter
XM_024450298.1:c.8023G>T XP_024306066.1:p.Glu2675Ter
XM_024450299.1:c.7951G>T XP_024306067.1:p.Glu2651Ter
XM_024450300.1:c.7813G>T XP_024306068.1:p.Glu2605Ter
XM_024450301.1:c.5899G>T XP_024306069.1:p.Glu1967Ter
XR_932867.1:n.7996G>T
XR_932868.1:n.7996G>T
XR_932869.1:n.7996G>T
XR_932870.1:n.7996G>T