Canonical Allele Identifier: CA394370065

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106538-A-G
• MyVariant Identifiers: chr16:g.2156539A>G (hg19) ; chr16:g.2106538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106538A>G , CM000678.2:g.2106538A>G	GRCh38
NC_000016.9:g.2156539A>G , CM000678.1:g.2156539A>G	GRCh37
NC_000016.8:g.2096540A>G	NCBI36
NG_008617.1:g.34361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7349T>C MANE Select	ENSP00000262304.4:p.Val2450Ala
ENST00000262304.8:c.7349T>C	ENSP00000262304.4:p.Val2450Ala
ENST00000415938.7:n.594T>C
ENST00000423118.5:c.7349T>C	ENSP00000399501.1:p.Val2450Ala
ENST00000483558.5:n.408T>C
ENST00000483731.5:n.1074T>C
ENST00000486339.6:n.1095T>C
ENST00000487932.5:c.2036T>C	ENSP00000457132.1:p.Val679Ala
ENST00000496574.6:n.1352T>C
ENST00000565639.6:n.1057T>C
ENST00000568591.5:c.2510T>C	ENSP00000457162.1:n.2510T>C
ENST00000569983.5:n.705T>C
NM_000296.3:c.7349T>C	NP_000287.3:p.Val2450Ala
NM_001009944.2:c.7349T>C	NP_001009944.2:p.Val2450Ala
XM_005255370.2:c.4304T>C	XP_005255427.1:p.Val1435Ala
XM_011522525.1:c.7427T>C	XP_011520827.1:p.Val2476Ala
XM_011522526.1:c.7427T>C	XP_011520828.1:p.Val2476Ala
XM_011522527.1:c.7427T>C	XP_011520829.1:p.Val2476Ala
XM_011522528.1:c.7403T>C	XP_011520830.1:p.Val2468Ala
XM_011522529.1:c.7403T>C	XP_011520831.1:p.Val2468Ala
XM_011522530.1:c.7373T>C	XP_011520832.1:p.Val2458Ala
XM_011522531.1:c.7355T>C	XP_011520833.1:p.Val2452Ala
XM_011522532.1:c.7301T>C	XP_011520834.1:p.Val2434Ala
XM_011522533.1:c.7220T>C	XP_011520835.1:p.Val2407Ala
XM_011522534.1:c.7163T>C	XP_011520836.1:p.Val2388Ala
XM_011522535.1:c.5249T>C	XP_011520837.1:p.Val1750Ala
XM_011522536.1:c.7427T>C	XP_011520838.1:p.Val2476Ala
XM_011522537.1:c.4427T>C	XP_011520839.1:p.Val1476Ala
XR_932867.1:n.7442T>C
XR_932868.1:n.7442T>C
XR_932869.1:n.7442T>C
XR_932870.1:n.7442T>C
XM_005255370.3:c.4304T>C	XP_005255427.1:p.Val1435Ala
XM_011522528.3:c.7403T>C	XP_011520830.1:p.Val2468Ala
XM_011522529.2:c.7403T>C	XP_011520831.1:p.Val2468Ala
XM_011522537.2:c.4427T>C	XP_011520839.1:p.Val1476Ala
XM_024450298.1:c.7469T>C	XP_024306066.1:p.Val2490Ala
XM_024450299.1:c.7397T>C	XP_024306067.1:p.Val2466Ala
XM_024450300.1:c.7259T>C	XP_024306068.1:p.Val2420Ala
XM_024450301.1:c.5345T>C	XP_024306069.1:p.Val1782Ala
NM_000296.4:c.7349T>C	NP_000287.4:p.Val2450Ala
NM_001009944.3:c.7349T>C MANE Select	NP_001009944.3:p.Val2450Ala