Canonical Allele Identifier: CA394377061

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2159731C>A (hg19) ; chr16:g.2109730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109730C>A , CM000678.2:g.2109730C>A	GRCh38
NC_000016.9:g.2159731C>A , CM000678.1:g.2159731C>A	GRCh37
NC_000016.8:g.2099732C>A	NCBI36
NG_008617.1:g.31169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5437G>T MANE Select	ENSP00000262304.4:p.Gly1813Ter
ENST00000262304.8:c.5437G>T	ENSP00000262304.4:p.Gly1813Ter
ENST00000415938.7:n.310+2610G>T
ENST00000423118.5:c.5437G>T	ENSP00000399501.1:p.Gly1813Ter
ENST00000468674.5:n.431-380G>T
ENST00000483024.1:c.233+2086G>T
ENST00000483731.5:n.790+2610G>T
ENST00000487932.5:c.124G>T	ENSP00000457132.1:p.Gly42Ter
ENST00000488185.2:c.473-1372G>T
ENST00000565639.6:n.773+2610G>T
ENST00000568591.5:c.2226+2610G>T	ENSP00000457162.1:n.2226+2610G>T
ENST00000569983.5:n.421+2610G>T
NM_000296.3:c.5437G>T	NP_000287.3:p.Gly1813Ter
NM_001009944.2:c.5437G>T	NP_001009944.2:p.Gly1813Ter
XM_005255370.2:c.2392G>T	XP_005255427.1:p.Gly798Ter
XM_011522525.1:c.5515G>T	XP_011520827.1:p.Gly1839Ter
XM_011522526.1:c.5515G>T	XP_011520828.1:p.Gly1839Ter
XM_011522527.1:c.5515G>T	XP_011520829.1:p.Gly1839Ter
XM_011522528.1:c.5491G>T	XP_011520830.1:p.Gly1831Ter
XM_011522529.1:c.5491G>T	XP_011520831.1:p.Gly1831Ter
XM_011522530.1:c.5461G>T	XP_011520832.1:p.Gly1821Ter
XM_011522531.1:c.5443G>T	XP_011520833.1:p.Gly1815Ter
XM_011522532.1:c.5389G>T	XP_011520834.1:p.Gly1797Ter
XM_011522533.1:c.5308G>T	XP_011520835.1:p.Gly1770Ter
XM_011522534.1:c.5251G>T	XP_011520836.1:p.Gly1751Ter
XM_011522535.1:c.3337G>T	XP_011520837.1:p.Gly1113Ter
XM_011522536.1:c.5515G>T	XP_011520838.1:p.Gly1839Ter
XM_011522537.1:c.2515G>T	XP_011520839.1:p.Gly839Ter
XR_932867.1:n.5530G>T
XR_932868.1:n.5530G>T
XR_932869.1:n.5530G>T
XR_932870.1:n.5530G>T
XM_005255370.3:c.2392G>T	XP_005255427.1:p.Gly798Ter
XM_011522528.3:c.5491G>T	XP_011520830.1:p.Gly1831Ter
XM_011522529.2:c.5491G>T	XP_011520831.1:p.Gly1831Ter
XM_011522537.2:c.2515G>T	XP_011520839.1:p.Gly839Ter
XM_024450298.1:c.5557G>T	XP_024306066.1:p.Gly1853Ter
XM_024450299.1:c.5485G>T	XP_024306067.1:p.Gly1829Ter
XM_024450300.1:c.5347G>T	XP_024306068.1:p.Gly1783Ter
XM_024450301.1:c.3433G>T	XP_024306069.1:p.Gly1145Ter
NM_000296.4:c.5437G>T	NP_000287.4:p.Gly1813Ter
NM_001009944.3:c.5437G>T MANE Select	NP_001009944.3:p.Gly1813Ter