Canonical Allele Identifier: CA394325204

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140383T>C (hg19) ; chr16:g.2090382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090382T>C , CM000678.2:g.2090382T>C	GRCh38
NC_000016.9:g.2140383T>C , CM000678.1:g.2140383T>C	GRCh37
NC_000016.8:g.2080384T>C	NCBI36
NG_005895.1:g.46077T>C , LRG_487:g.46077T>C
NG_008617.1:g.52839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12347A>G MANE Select	ENSP00000262304.4:p.Glu4116Gly
ENST00000262304.8:c.12347A>G	ENSP00000262304.4:p.Glu4116Gly
ENST00000423118.5:c.12344A>G	ENSP00000399501.1:p.Glu4115Gly
ENST00000472577.1:n.375A>G
NM_000296.3:c.12344A>G	NP_000287.3:p.Glu4115Gly
NM_001009944.2:c.12347A>G	NP_001009944.2:p.Glu4116Gly
XM_005255370.2:c.9302A>G	XP_005255427.1:p.Glu3101Gly
XM_011522525.1:c.12425A>G	XP_011520827.1:p.Glu4142Gly
XM_011522526.1:c.12422A>G	XP_011520828.1:p.Glu4141Gly
XM_011522527.1:c.12407A>G	XP_011520829.1:p.Glu4136Gly
XM_011522528.1:c.12401A>G	XP_011520830.1:p.Glu4134Gly
XM_011522529.1:c.12398A>G	XP_011520831.1:p.Glu4133Gly
XM_011522530.1:c.12371A>G	XP_011520832.1:p.Glu4124Gly
XM_011522531.1:c.12353A>G	XP_011520833.1:p.Glu4118Gly
XM_011522532.1:c.12299A>G	XP_011520834.1:p.Glu4100Gly
XM_011522533.1:c.12218A>G	XP_011520835.1:p.Glu4073Gly
XM_011522534.1:c.12161A>G	XP_011520836.1:p.Glu4054Gly
XM_011522535.1:c.10247A>G	XP_011520837.1:p.Glu3416Gly
XM_011522537.1:c.9425A>G	XP_011520839.1:p.Glu3142Gly
XR_932867.1:n.12265A>G
XM_005255370.3:c.9302A>G	XP_005255427.1:p.Glu3101Gly
XM_011522528.3:c.12401A>G	XP_011520830.1:p.Glu4134Gly
XM_011522529.2:c.12398A>G	XP_011520831.1:p.Glu4133Gly
XM_011522537.2:c.9425A>G	XP_011520839.1:p.Glu3142Gly
XM_024450298.1:c.12467A>G	XP_024306066.1:p.Glu4156Gly
XM_024450299.1:c.12395A>G	XP_024306067.1:p.Glu4132Gly
XM_024450300.1:c.12257A>G	XP_024306068.1:p.Glu4086Gly
XM_024450301.1:c.10343A>G	XP_024306069.1:p.Glu3448Gly
NM_000296.4:c.12344A>G	NP_000287.4:p.Glu4115Gly
NM_001009944.3:c.12347A>G MANE Select	NP_001009944.3:p.Glu4116Gly