Canonical Allele Identifier: CA493046348

Gene: PKD1

Linked Data

• gnomAD v4: 16-2103882-G-A
• MyVariant Identifiers: chr16:g.2153883G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103882G>A , CM000678.2:g.2103882G>A	GRCh38
NC_000016.9:g.2153883G>A , CM000678.1:g.2153883G>A	GRCh37
NC_000016.8:g.2093884G>A	NCBI36
NG_008617.1:g.39339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8175C>T MANE Select	ENSP00000262304.4:p.His2725=
ENST00000262304.8:c.8175C>T	ENSP00000262304.4:p.His2725=
ENST00000415938.7:n.1420C>T
ENST00000423118.5:c.8175C>T	ENSP00000399501.1:p.His2725=
ENST00000483731.5:n.1900C>T
ENST00000486339.6:n.2311C>T
ENST00000487932.5:c.2862C>T	ENSP00000457132.1:p.His954=
ENST00000496574.6:n.2411C>T
ENST00000561991.5:n.697C>T
ENST00000565639.6:n.1883C>T
ENST00000567946.1:c.236C>T
NM_000296.3:c.8175C>T	NP_000287.3:p.His2725=
NM_001009944.2:c.8175C>T	NP_001009944.2:p.His2725=
XM_005255370.2:c.5130C>T	XP_005255427.1:p.His1710=
XM_011522525.1:c.8253C>T	XP_011520827.1:p.His2751=
XM_011522526.1:c.8253C>T	XP_011520828.1:p.His2751=
XM_011522527.1:c.8253C>T	XP_011520829.1:p.His2751=
XM_011522528.1:c.8229C>T	XP_011520830.1:p.His2743=
XM_011522529.1:c.8229C>T	XP_011520831.1:p.His2743=
XM_011522530.1:c.8199C>T	XP_011520832.1:p.His2733=
XM_011522531.1:c.8181C>T	XP_011520833.1:p.His2727=
XM_011522532.1:c.8127C>T	XP_011520834.1:p.His2709=
XM_011522533.1:c.8046C>T	XP_011520835.1:p.His2682=
XM_011522534.1:c.7989C>T	XP_011520836.1:p.His2663=
XM_011522535.1:c.6075C>T	XP_011520837.1:p.His2025=
XM_011522536.1:c.8253C>T	XP_011520838.1:p.His2751=
XM_011522537.1:c.5253C>T	XP_011520839.1:p.His1751=
XR_932867.1:n.8268C>T
XR_932868.1:n.8268C>T
XR_932869.1:n.8268C>T
XR_932870.1:n.8268C>T
XM_005255370.3:c.5130C>T	XP_005255427.1:p.His1710=
XM_011522528.3:c.8229C>T	XP_011520830.1:p.His2743=
XM_011522529.2:c.8229C>T	XP_011520831.1:p.His2743=
XM_011522537.2:c.5253C>T	XP_011520839.1:p.His1751=
XM_024450298.1:c.8295C>T	XP_024306066.1:p.His2765=
XM_024450299.1:c.8223C>T	XP_024306067.1:p.His2741=
XM_024450300.1:c.8085C>T	XP_024306068.1:p.His2695=
XM_024450301.1:c.6171C>T	XP_024306069.1:p.His2057=
NM_000296.4:c.8175C>T	NP_000287.4:p.His2725=
NM_001009944.3:c.8175C>T MANE Select	NP_001009944.3:p.His2725=