Canonical Allele Identifier: CA394370488

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106614-C-T
• COSMIC: COSM224498
• MyVariant Identifiers: chr16:g.2156615C>T (hg19) ; chr16:g.2106614C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7273G>A MANE Select	ENSP00000262304.4:p.Gly2425Ser
ENST00000262304.8:c.7273G>A	ENSP00000262304.4:p.Gly2425Ser
ENST00000415938.7:n.518G>A
ENST00000423118.5:c.7273G>A	ENSP00000399501.1:p.Gly2425Ser
ENST00000483024.1:c.441G>A
ENST00000483558.5:n.332G>A
ENST00000483731.5:n.998G>A
ENST00000486339.6:n.1019G>A
ENST00000487932.5:c.1960G>A	ENSP00000457132.1:p.Gly654Ser
ENST00000496574.6:n.1276G>A
ENST00000565639.6:n.981G>A
ENST00000568591.5:c.2434G>A	ENSP00000457162.1:n.2434G>A
ENST00000569983.5:n.629G>A
NM_000296.3:c.7273G>A	NP_000287.3:p.Gly2425Ser
NM_001009944.2:c.7273G>A	NP_001009944.2:p.Gly2425Ser
XM_005255370.2:c.4228G>A	XP_005255427.1:p.Gly1410Ser
XM_011522525.1:c.7351G>A	XP_011520827.1:p.Gly2451Ser
XM_011522526.1:c.7351G>A	XP_011520828.1:p.Gly2451Ser
XM_011522527.1:c.7351G>A	XP_011520829.1:p.Gly2451Ser
XM_011522528.1:c.7327G>A	XP_011520830.1:p.Gly2443Ser
XM_011522529.1:c.7327G>A	XP_011520831.1:p.Gly2443Ser
XM_011522530.1:c.7297G>A	XP_011520832.1:p.Gly2433Ser
XM_011522531.1:c.7279G>A	XP_011520833.1:p.Gly2427Ser
XM_011522532.1:c.7225G>A	XP_011520834.1:p.Gly2409Ser
XM_011522533.1:c.7144G>A	XP_011520835.1:p.Gly2382Ser
XM_011522534.1:c.7087G>A	XP_011520836.1:p.Gly2363Ser
XM_011522535.1:c.5173G>A	XP_011520837.1:p.Gly1725Ser
XM_011522536.1:c.7351G>A	XP_011520838.1:p.Gly2451Ser
XM_011522537.1:c.4351G>A	XP_011520839.1:p.Gly1451Ser
XR_932867.1:n.7366G>A
XR_932868.1:n.7366G>A
XR_932869.1:n.7366G>A
XR_932870.1:n.7366G>A
XM_005255370.3:c.4228G>A	XP_005255427.1:p.Gly1410Ser
XM_011522528.3:c.7327G>A	XP_011520830.1:p.Gly2443Ser
XM_011522529.2:c.7327G>A	XP_011520831.1:p.Gly2443Ser
XM_011522537.2:c.4351G>A	XP_011520839.1:p.Gly1451Ser
XM_024450298.1:c.7393G>A	XP_024306066.1:p.Gly2465Ser
XM_024450299.1:c.7321G>A	XP_024306067.1:p.Gly2441Ser
XM_024450300.1:c.7183G>A	XP_024306068.1:p.Gly2395Ser
XM_024450301.1:c.5269G>A	XP_024306069.1:p.Gly1757Ser
NM_000296.4:c.7273G>A	NP_000287.4:p.Gly2425Ser
NM_001009944.3:c.7273G>A MANE Select	NP_001009944.3:p.Gly2425Ser