Canonical Allele Identifier: CA394370483

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2156615C>A (hg19) ; chr16:g.2106614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106614C>A , CM000678.2:g.2106614C>A	GRCh38
NC_000016.9:g.2156615C>A , CM000678.1:g.2156615C>A	GRCh37
NC_000016.8:g.2096616C>A	NCBI36
NG_008617.1:g.34285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7273G>T MANE Select	ENSP00000262304.4:p.Gly2425Cys
ENST00000262304.8:c.7273G>T	ENSP00000262304.4:p.Gly2425Cys
ENST00000415938.7:n.518G>T
ENST00000423118.5:c.7273G>T	ENSP00000399501.1:p.Gly2425Cys
ENST00000483024.1:c.441G>T
ENST00000483558.5:n.332G>T
ENST00000483731.5:n.998G>T
ENST00000486339.6:n.1019G>T
ENST00000487932.5:c.1960G>T	ENSP00000457132.1:p.Gly654Cys
ENST00000496574.6:n.1276G>T
ENST00000565639.6:n.981G>T
ENST00000568591.5:c.2434G>T	ENSP00000457162.1:n.2434G>T
ENST00000569983.5:n.629G>T
NM_000296.3:c.7273G>T	NP_000287.3:p.Gly2425Cys
NM_001009944.2:c.7273G>T	NP_001009944.2:p.Gly2425Cys
XM_005255370.2:c.4228G>T	XP_005255427.1:p.Gly1410Cys
XM_011522525.1:c.7351G>T	XP_011520827.1:p.Gly2451Cys
XM_011522526.1:c.7351G>T	XP_011520828.1:p.Gly2451Cys
XM_011522527.1:c.7351G>T	XP_011520829.1:p.Gly2451Cys
XM_011522528.1:c.7327G>T	XP_011520830.1:p.Gly2443Cys
XM_011522529.1:c.7327G>T	XP_011520831.1:p.Gly2443Cys
XM_011522530.1:c.7297G>T	XP_011520832.1:p.Gly2433Cys
XM_011522531.1:c.7279G>T	XP_011520833.1:p.Gly2427Cys
XM_011522532.1:c.7225G>T	XP_011520834.1:p.Gly2409Cys
XM_011522533.1:c.7144G>T	XP_011520835.1:p.Gly2382Cys
XM_011522534.1:c.7087G>T	XP_011520836.1:p.Gly2363Cys
XM_011522535.1:c.5173G>T	XP_011520837.1:p.Gly1725Cys
XM_011522536.1:c.7351G>T	XP_011520838.1:p.Gly2451Cys
XM_011522537.1:c.4351G>T	XP_011520839.1:p.Gly1451Cys
XR_932867.1:n.7366G>T
XR_932868.1:n.7366G>T
XR_932869.1:n.7366G>T
XR_932870.1:n.7366G>T
XM_005255370.3:c.4228G>T	XP_005255427.1:p.Gly1410Cys
XM_011522528.3:c.7327G>T	XP_011520830.1:p.Gly2443Cys
XM_011522529.2:c.7327G>T	XP_011520831.1:p.Gly2443Cys
XM_011522537.2:c.4351G>T	XP_011520839.1:p.Gly1451Cys
XM_024450298.1:c.7393G>T	XP_024306066.1:p.Gly2465Cys
XM_024450299.1:c.7321G>T	XP_024306067.1:p.Gly2441Cys
XM_024450300.1:c.7183G>T	XP_024306068.1:p.Gly2395Cys
XM_024450301.1:c.5269G>T	XP_024306069.1:p.Gly1757Cys
NM_000296.4:c.7273G>T	NP_000287.4:p.Gly2425Cys
NM_001009944.3:c.7273G>T MANE Select	NP_001009944.3:p.Gly2425Cys