Canonical Allele Identifier: CA394382712

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2161534G>C (hg19) ; chr16:g.2111533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111533G>C , CM000678.2:g.2111533G>C	GRCh38
NC_000016.9:g.2161534G>C , CM000678.1:g.2161534G>C	GRCh37
NC_000016.8:g.2101535G>C	NCBI36
NG_008617.1:g.29366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3634C>G MANE Select	ENSP00000262304.4:p.Leu1212Val
ENST00000262304.8:c.3634C>G	ENSP00000262304.4:p.Leu1212Val
ENST00000415938.7:n.310+807C>G
ENST00000423118.5:c.3634C>G	ENSP00000399501.1:p.Leu1212Val
ENST00000468674.5:n.430+807C>G
ENST00000469241.2:n.584C>G
ENST00000483024.1:c.233+283C>G
ENST00000483731.5:n.790+807C>G
ENST00000488185.2:c.473-3175C>G
ENST00000565639.6:n.773+807C>G
ENST00000568591.5:c.2226+807C>G	ENSP00000457162.1:n.2226+807C>G
ENST00000569983.5:n.421+807C>G
NM_000296.3:c.3634C>G	NP_000287.3:p.Leu1212Val
NM_001009944.2:c.3634C>G	NP_001009944.2:p.Leu1212Val
XM_005255370.2:c.589C>G	XP_005255427.1:p.Leu197Val
XM_011522525.1:c.3712C>G	XP_011520827.1:p.Leu1238Val
XM_011522526.1:c.3712C>G	XP_011520828.1:p.Leu1238Val
XM_011522527.1:c.3712C>G	XP_011520829.1:p.Leu1238Val
XM_011522528.1:c.3688C>G	XP_011520830.1:p.Leu1230Val
XM_011522529.1:c.3688C>G	XP_011520831.1:p.Leu1230Val
XM_011522530.1:c.3658C>G	XP_011520832.1:p.Leu1220Val
XM_011522531.1:c.3640C>G	XP_011520833.1:p.Leu1214Val
XM_011522532.1:c.3586C>G	XP_011520834.1:p.Leu1196Val
XM_011522533.1:c.3505C>G	XP_011520835.1:p.Leu1169Val
XM_011522534.1:c.3448C>G	XP_011520836.1:p.Leu1150Val
XM_011522535.1:c.1534C>G	XP_011520837.1:p.Leu512Val
XM_011522536.1:c.3712C>G	XP_011520838.1:p.Leu1238Val
XM_011522537.1:c.712C>G	XP_011520839.1:p.Leu238Val
XR_932867.1:n.3727C>G
XR_932868.1:n.3727C>G
XR_932869.1:n.3727C>G
XR_932870.1:n.3727C>G
XM_005255370.3:c.589C>G	XP_005255427.1:p.Leu197Val
XM_011522528.3:c.3688C>G	XP_011520830.1:p.Leu1230Val
XM_011522529.2:c.3688C>G	XP_011520831.1:p.Leu1230Val
XM_011522537.2:c.712C>G	XP_011520839.1:p.Leu238Val
XM_024450298.1:c.3754C>G	XP_024306066.1:p.Leu1252Val
XM_024450299.1:c.3682C>G	XP_024306067.1:p.Leu1228Val
XM_024450300.1:c.3544C>G	XP_024306068.1:p.Leu1182Val
XM_024450301.1:c.1630C>G	XP_024306069.1:p.Leu544Val
NM_000296.4:c.3634C>G	NP_000287.4:p.Leu1212Val
NM_001009944.3:c.3634C>G MANE Select	NP_001009944.3:p.Leu1212Val