Canonical Allele Identifier: CA493044569

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140469A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090468A>G , CM000678.2:g.2090468A>G	GRCh38
NC_000016.9:g.2140469A>G , CM000678.1:g.2140469A>G	GRCh37
NC_000016.8:g.2080470A>G	NCBI36
NG_005895.1:g.46163A>G , LRG_487:g.46163A>G
NG_008617.1:g.52753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12261T>C MANE Select	ENSP00000262304.4:p.Cys4087=
ENST00000262304.8:c.12261T>C	ENSP00000262304.4:p.Cys4087=
ENST00000423118.5:c.12258T>C	ENSP00000399501.1:p.Cys4086=
ENST00000472577.1:n.289T>C
NM_000296.3:c.12258T>C	NP_000287.3:p.Cys4086=
NM_001009944.2:c.12261T>C	NP_001009944.2:p.Cys4087=
XM_005255370.2:c.9216T>C	XP_005255427.1:p.Cys3072=
XM_011522525.1:c.12339T>C	XP_011520827.1:p.Cys4113=
XM_011522526.1:c.12336T>C	XP_011520828.1:p.Cys4112=
XM_011522527.1:c.12321T>C	XP_011520829.1:p.Cys4107=
XM_011522528.1:c.12315T>C	XP_011520830.1:p.Cys4105=
XM_011522529.1:c.12312T>C	XP_011520831.1:p.Cys4104=
XM_011522530.1:c.12285T>C	XP_011520832.1:p.Cys4095=
XM_011522531.1:c.12267T>C	XP_011520833.1:p.Cys4089=
XM_011522532.1:c.12213T>C	XP_011520834.1:p.Cys4071=
XM_011522533.1:c.12132T>C	XP_011520835.1:p.Cys4044=
XM_011522534.1:c.12075T>C	XP_011520836.1:p.Cys4025=
XM_011522535.1:c.10161T>C	XP_011520837.1:p.Cys3387=
XM_011522537.1:c.9339T>C	XP_011520839.1:p.Cys3113=
XR_932867.1:n.12179T>C
XM_005255370.3:c.9216T>C	XP_005255427.1:p.Cys3072=
XM_011522528.3:c.12315T>C	XP_011520830.1:p.Cys4105=
XM_011522529.2:c.12312T>C	XP_011520831.1:p.Cys4104=
XM_011522537.2:c.9339T>C	XP_011520839.1:p.Cys3113=
XM_024450298.1:c.12381T>C	XP_024306066.1:p.Cys4127=
XM_024450299.1:c.12309T>C	XP_024306067.1:p.Cys4103=
XM_024450300.1:c.12171T>C	XP_024306068.1:p.Cys4057=
XM_024450301.1:c.10257T>C	XP_024306069.1:p.Cys3419=
NM_000296.4:c.12258T>C	NP_000287.4:p.Cys4086=
NM_001009944.3:c.12261T>C MANE Select	NP_001009944.3:p.Cys4087=