Canonical Allele Identifier: CA394370018

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106524-C-G
• MyVariant Identifiers: chr16:g.2156525C>G (hg19) ; chr16:g.2106524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106524C>G , CM000678.2:g.2106524C>G	GRCh38
NC_000016.9:g.2156525C>G , CM000678.1:g.2156525C>G	GRCh37
NC_000016.8:g.2096526C>G	NCBI36
NG_008617.1:g.34375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7363G>C MANE Select	ENSP00000262304.4:p.Gly2455Arg
ENST00000262304.8:c.7363G>C	ENSP00000262304.4:p.Gly2455Arg
ENST00000415938.7:n.608G>C
ENST00000423118.5:c.7363G>C	ENSP00000399501.1:p.Gly2455Arg
ENST00000483558.5:n.422G>C
ENST00000483731.5:n.1088G>C
ENST00000486339.6:n.1109G>C
ENST00000487932.5:c.2050G>C	ENSP00000457132.1:p.Gly684Arg
ENST00000496574.6:n.1366G>C
ENST00000565639.6:n.1071G>C
ENST00000568591.5:c.2524G>C	ENSP00000457162.1:n.2524G>C
ENST00000569983.5:n.719G>C
NM_000296.3:c.7363G>C	NP_000287.3:p.Gly2455Arg
NM_001009944.2:c.7363G>C	NP_001009944.2:p.Gly2455Arg
XM_005255370.2:c.4318G>C	XP_005255427.1:p.Gly1440Arg
XM_011522525.1:c.7441G>C	XP_011520827.1:p.Gly2481Arg
XM_011522526.1:c.7441G>C	XP_011520828.1:p.Gly2481Arg
XM_011522527.1:c.7441G>C	XP_011520829.1:p.Gly2481Arg
XM_011522528.1:c.7417G>C	XP_011520830.1:p.Gly2473Arg
XM_011522529.1:c.7417G>C	XP_011520831.1:p.Gly2473Arg
XM_011522530.1:c.7387G>C	XP_011520832.1:p.Gly2463Arg
XM_011522531.1:c.7369G>C	XP_011520833.1:p.Gly2457Arg
XM_011522532.1:c.7315G>C	XP_011520834.1:p.Gly2439Arg
XM_011522533.1:c.7234G>C	XP_011520835.1:p.Gly2412Arg
XM_011522534.1:c.7177G>C	XP_011520836.1:p.Gly2393Arg
XM_011522535.1:c.5263G>C	XP_011520837.1:p.Gly1755Arg
XM_011522536.1:c.7441G>C	XP_011520838.1:p.Gly2481Arg
XM_011522537.1:c.4441G>C	XP_011520839.1:p.Gly1481Arg
XR_932867.1:n.7456G>C
XR_932868.1:n.7456G>C
XR_932869.1:n.7456G>C
XR_932870.1:n.7456G>C
XM_005255370.3:c.4318G>C	XP_005255427.1:p.Gly1440Arg
XM_011522528.3:c.7417G>C	XP_011520830.1:p.Gly2473Arg
XM_011522529.2:c.7417G>C	XP_011520831.1:p.Gly2473Arg
XM_011522537.2:c.4441G>C	XP_011520839.1:p.Gly1481Arg
XM_024450298.1:c.7483G>C	XP_024306066.1:p.Gly2495Arg
XM_024450299.1:c.7411G>C	XP_024306067.1:p.Gly2471Arg
XM_024450300.1:c.7273G>C	XP_024306068.1:p.Gly2425Arg
XM_024450301.1:c.5359G>C	XP_024306069.1:p.Gly1787Arg
NM_000296.4:c.7363G>C	NP_000287.4:p.Gly2455Arg
NM_001009944.3:c.7363G>C MANE Select	NP_001009944.3:p.Gly2455Arg