Canonical Allele Identifier: CA394325468

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140411G>T (hg19) ; chr16:g.2090410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090410G>T , CM000678.2:g.2090410G>T	GRCh38
NC_000016.9:g.2140411G>T , CM000678.1:g.2140411G>T	GRCh37
NC_000016.8:g.2080412G>T	NCBI36
NG_005895.1:g.46105G>T , LRG_487:g.46105G>T
NG_008617.1:g.52811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12319C>A MANE Select	ENSP00000262304.4:p.Arg4107Ser
ENST00000262304.8:c.12319C>A	ENSP00000262304.4:p.Arg4107Ser
ENST00000423118.5:c.12316C>A	ENSP00000399501.1:p.Arg4106Ser
ENST00000472577.1:n.347C>A
NM_000296.3:c.12316C>A	NP_000287.3:p.Arg4106Ser
NM_001009944.2:c.12319C>A	NP_001009944.2:p.Arg4107Ser
XM_005255370.2:c.9274C>A	XP_005255427.1:p.Arg3092Ser
XM_011522525.1:c.12397C>A	XP_011520827.1:p.Arg4133Ser
XM_011522526.1:c.12394C>A	XP_011520828.1:p.Arg4132Ser
XM_011522527.1:c.12379C>A	XP_011520829.1:p.Arg4127Ser
XM_011522528.1:c.12373C>A	XP_011520830.1:p.Arg4125Ser
XM_011522529.1:c.12370C>A	XP_011520831.1:p.Arg4124Ser
XM_011522530.1:c.12343C>A	XP_011520832.1:p.Arg4115Ser
XM_011522531.1:c.12325C>A	XP_011520833.1:p.Arg4109Ser
XM_011522532.1:c.12271C>A	XP_011520834.1:p.Arg4091Ser
XM_011522533.1:c.12190C>A	XP_011520835.1:p.Arg4064Ser
XM_011522534.1:c.12133C>A	XP_011520836.1:p.Arg4045Ser
XM_011522535.1:c.10219C>A	XP_011520837.1:p.Arg3407Ser
XM_011522537.1:c.9397C>A	XP_011520839.1:p.Arg3133Ser
XR_932867.1:n.12237C>A
XM_005255370.3:c.9274C>A	XP_005255427.1:p.Arg3092Ser
XM_011522528.3:c.12373C>A	XP_011520830.1:p.Arg4125Ser
XM_011522529.2:c.12370C>A	XP_011520831.1:p.Arg4124Ser
XM_011522537.2:c.9397C>A	XP_011520839.1:p.Arg3133Ser
XM_024450298.1:c.12439C>A	XP_024306066.1:p.Arg4147Ser
XM_024450299.1:c.12367C>A	XP_024306067.1:p.Arg4123Ser
XM_024450300.1:c.12229C>A	XP_024306068.1:p.Arg4077Ser
XM_024450301.1:c.10315C>A	XP_024306069.1:p.Arg3439Ser
NM_000296.4:c.12316C>A	NP_000287.4:p.Arg4106Ser
NM_001009944.3:c.12319C>A MANE Select	NP_001009944.3:p.Arg4107Ser