Canonical Allele Identifier: CA394377047

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159727C>G (hg19) ; chr16:g.2109726C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109726C>G , CM000678.2:g.2109726C>G	GRCh38
NC_000016.9:g.2159727C>G , CM000678.1:g.2159727C>G	GRCh37
NC_000016.8:g.2099728C>G	NCBI36
NG_008617.1:g.31173G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.5441G>C MANE Select	ENSP00000262304.4:p.Gly1814Ala
ENST00000262304.8:c.5441G>C	ENSP00000262304.4:p.Gly1814Ala
ENST00000415938.7:n.310+2614G>C
ENST00000423118.5:c.5441G>C	ENSP00000399501.1:p.Gly1814Ala
ENST00000468674.5:n.431-376G>C
ENST00000483024.1:c.233+2090G>C
ENST00000483731.5:n.790+2614G>C
ENST00000487932.5:c.128G>C	ENSP00000457132.1:p.Gly43Ala
ENST00000488185.2:c.473-1368G>C
ENST00000565639.6:n.773+2614G>C
ENST00000568591.5:c.2226+2614G>C	ENSP00000457162.1:n.2226+2614G>C
ENST00000569983.5:n.421+2614G>C
NM_000296.3:c.5441G>C	NP_000287.3:p.Gly1814Ala
NM_001009944.2:c.5441G>C	NP_001009944.2:p.Gly1814Ala
XM_005255370.2:c.2396G>C	XP_005255427.1:p.Gly799Ala
XM_011522525.1:c.5519G>C	XP_011520827.1:p.Gly1840Ala
XM_011522526.1:c.5519G>C	XP_011520828.1:p.Gly1840Ala
XM_011522527.1:c.5519G>C	XP_011520829.1:p.Gly1840Ala
XM_011522528.1:c.5495G>C	XP_011520830.1:p.Gly1832Ala
XM_011522529.1:c.5495G>C	XP_011520831.1:p.Gly1832Ala
XM_011522530.1:c.5465G>C	XP_011520832.1:p.Gly1822Ala
XM_011522531.1:c.5447G>C	XP_011520833.1:p.Gly1816Ala
XM_011522532.1:c.5393G>C	XP_011520834.1:p.Gly1798Ala
XM_011522533.1:c.5312G>C	XP_011520835.1:p.Gly1771Ala
XM_011522534.1:c.5255G>C	XP_011520836.1:p.Gly1752Ala
XM_011522535.1:c.3341G>C	XP_011520837.1:p.Gly1114Ala
XM_011522536.1:c.5519G>C	XP_011520838.1:p.Gly1840Ala
XM_011522537.1:c.2519G>C	XP_011520839.1:p.Gly840Ala
XR_932867.1:n.5534G>C
XR_932868.1:n.5534G>C
XR_932869.1:n.5534G>C
XR_932870.1:n.5534G>C
XM_005255370.3:c.2396G>C	XP_005255427.1:p.Gly799Ala
XM_011522528.3:c.5495G>C	XP_011520830.1:p.Gly1832Ala
XM_011522529.2:c.5495G>C	XP_011520831.1:p.Gly1832Ala
XM_011522537.2:c.2519G>C	XP_011520839.1:p.Gly840Ala
XM_024450298.1:c.5561G>C	XP_024306066.1:p.Gly1854Ala
XM_024450299.1:c.5489G>C	XP_024306067.1:p.Gly1830Ala
XM_024450300.1:c.5351G>C	XP_024306068.1:p.Gly1784Ala
XM_024450301.1:c.3437G>C	XP_024306069.1:p.Gly1146Ala
NM_000296.4:c.5441G>C	NP_000287.4:p.Gly1814Ala
NM_001009944.3:c.5441G>C MANE Select	NP_001009944.3:p.Gly1814Ala