Canonical Allele Identifier: CA394377037

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159724C>G (hg19) ; chr16:g.2109723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109723C>G , CM000678.2:g.2109723C>G	GRCh38
NC_000016.9:g.2159724C>G , CM000678.1:g.2159724C>G	GRCh37
NC_000016.8:g.2099725C>G	NCBI36
NG_008617.1:g.31176G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5444G>C MANE Select	ENSP00000262304.4:p.Ser1815Thr
ENST00000262304.8:c.5444G>C	ENSP00000262304.4:p.Ser1815Thr
ENST00000415938.7:n.310+2617G>C
ENST00000423118.5:c.5444G>C	ENSP00000399501.1:p.Ser1815Thr
ENST00000468674.5:n.431-373G>C
ENST00000483024.1:c.233+2093G>C
ENST00000483731.5:n.790+2617G>C
ENST00000487932.5:c.131G>C	ENSP00000457132.1:p.Ser44Thr
ENST00000488185.2:c.473-1365G>C
ENST00000565639.6:n.773+2617G>C
ENST00000568591.5:c.2226+2617G>C	ENSP00000457162.1:n.2226+2617G>C
ENST00000569983.5:n.421+2617G>C
NM_000296.3:c.5444G>C	NP_000287.3:p.Ser1815Thr
NM_001009944.2:c.5444G>C	NP_001009944.2:p.Ser1815Thr
XM_005255370.2:c.2399G>C	XP_005255427.1:p.Ser800Thr
XM_011522525.1:c.5522G>C	XP_011520827.1:p.Ser1841Thr
XM_011522526.1:c.5522G>C	XP_011520828.1:p.Ser1841Thr
XM_011522527.1:c.5522G>C	XP_011520829.1:p.Ser1841Thr
XM_011522528.1:c.5498G>C	XP_011520830.1:p.Ser1833Thr
XM_011522529.1:c.5498G>C	XP_011520831.1:p.Ser1833Thr
XM_011522530.1:c.5468G>C	XP_011520832.1:p.Ser1823Thr
XM_011522531.1:c.5450G>C	XP_011520833.1:p.Ser1817Thr
XM_011522532.1:c.5396G>C	XP_011520834.1:p.Ser1799Thr
XM_011522533.1:c.5315G>C	XP_011520835.1:p.Ser1772Thr
XM_011522534.1:c.5258G>C	XP_011520836.1:p.Ser1753Thr
XM_011522535.1:c.3344G>C	XP_011520837.1:p.Ser1115Thr
XM_011522536.1:c.5522G>C	XP_011520838.1:p.Ser1841Thr
XM_011522537.1:c.2522G>C	XP_011520839.1:p.Ser841Thr
XR_932867.1:n.5537G>C
XR_932868.1:n.5537G>C
XR_932869.1:n.5537G>C
XR_932870.1:n.5537G>C
XM_005255370.3:c.2399G>C	XP_005255427.1:p.Ser800Thr
XM_011522528.3:c.5498G>C	XP_011520830.1:p.Ser1833Thr
XM_011522529.2:c.5498G>C	XP_011520831.1:p.Ser1833Thr
XM_011522537.2:c.2522G>C	XP_011520839.1:p.Ser841Thr
XM_024450298.1:c.5564G>C	XP_024306066.1:p.Ser1855Thr
XM_024450299.1:c.5492G>C	XP_024306067.1:p.Ser1831Thr
XM_024450300.1:c.5354G>C	XP_024306068.1:p.Ser1785Thr
XM_024450301.1:c.3440G>C	XP_024306069.1:p.Ser1147Thr
NM_000296.4:c.5444G>C	NP_000287.4:p.Ser1815Thr
NM_001009944.3:c.5444G>C MANE Select	NP_001009944.3:p.Ser1815Thr