Canonical Allele Identifier: CA394370293

Gene: PKD1

Linked Data

• gnomAD v4: 16-2106577-A-G
• MyVariant Identifiers: chr16:g.2156578A>G (hg19) ; chr16:g.2106577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106577A>G , CM000678.2:g.2106577A>G	GRCh38
NC_000016.9:g.2156578A>G , CM000678.1:g.2156578A>G	GRCh37
NC_000016.8:g.2096579A>G	NCBI36
NG_008617.1:g.34322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7310T>C MANE Select	ENSP00000262304.4:p.Val2437Ala
ENST00000262304.8:c.7310T>C	ENSP00000262304.4:p.Val2437Ala
ENST00000415938.7:n.555T>C
ENST00000423118.5:c.7310T>C	ENSP00000399501.1:p.Val2437Ala
ENST00000483558.5:n.369T>C
ENST00000483731.5:n.1035T>C
ENST00000486339.6:n.1056T>C
ENST00000487932.5:c.1997T>C	ENSP00000457132.1:p.Val666Ala
ENST00000496574.6:n.1313T>C
ENST00000565639.6:n.1018T>C
ENST00000568591.5:c.2471T>C	ENSP00000457162.1:n.2471T>C
ENST00000569983.5:n.666T>C
NM_000296.3:c.7310T>C	NP_000287.3:p.Val2437Ala
NM_001009944.2:c.7310T>C	NP_001009944.2:p.Val2437Ala
XM_005255370.2:c.4265T>C	XP_005255427.1:p.Val1422Ala
XM_011522525.1:c.7388T>C	XP_011520827.1:p.Val2463Ala
XM_011522526.1:c.7388T>C	XP_011520828.1:p.Val2463Ala
XM_011522527.1:c.7388T>C	XP_011520829.1:p.Val2463Ala
XM_011522528.1:c.7364T>C	XP_011520830.1:p.Val2455Ala
XM_011522529.1:c.7364T>C	XP_011520831.1:p.Val2455Ala
XM_011522530.1:c.7334T>C	XP_011520832.1:p.Val2445Ala
XM_011522531.1:c.7316T>C	XP_011520833.1:p.Val2439Ala
XM_011522532.1:c.7262T>C	XP_011520834.1:p.Val2421Ala
XM_011522533.1:c.7181T>C	XP_011520835.1:p.Val2394Ala
XM_011522534.1:c.7124T>C	XP_011520836.1:p.Val2375Ala
XM_011522535.1:c.5210T>C	XP_011520837.1:p.Val1737Ala
XM_011522536.1:c.7388T>C	XP_011520838.1:p.Val2463Ala
XM_011522537.1:c.4388T>C	XP_011520839.1:p.Val1463Ala
XR_932867.1:n.7403T>C
XR_932868.1:n.7403T>C
XR_932869.1:n.7403T>C
XR_932870.1:n.7403T>C
XM_005255370.3:c.4265T>C	XP_005255427.1:p.Val1422Ala
XM_011522528.3:c.7364T>C	XP_011520830.1:p.Val2455Ala
XM_011522529.2:c.7364T>C	XP_011520831.1:p.Val2455Ala
XM_011522537.2:c.4388T>C	XP_011520839.1:p.Val1463Ala
XM_024450298.1:c.7430T>C	XP_024306066.1:p.Val2477Ala
XM_024450299.1:c.7358T>C	XP_024306067.1:p.Val2453Ala
XM_024450300.1:c.7220T>C	XP_024306068.1:p.Val2407Ala
XM_024450301.1:c.5306T>C	XP_024306069.1:p.Val1769Ala
NM_000296.4:c.7310T>C	NP_000287.4:p.Val2437Ala
NM_001009944.3:c.7310T>C MANE Select	NP_001009944.3:p.Val2437Ala