Canonical Allele Identifier: CA493046356

Gene: PKD1

Linked Data

• dbSNP Id: rs1365024017
• gnomAD v2: 16-2153889-G-A
• gnomAD v4: 16-2103888-G-A
• MyVariant Identifiers: chr16:g.2153889G>A (hg19) ; chr16:g.2103888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2103888G>A , CM000678.2:g.2103888G>A	GRCh38
NC_000016.9:g.2153889G>A , CM000678.1:g.2153889G>A	GRCh37
NC_000016.8:g.2093890G>A	NCBI36
NG_008617.1:g.39333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.8169C>T MANE Select	ENSP00000262304.4:p.Leu2723=
ENST00000262304.8:c.8169C>T	ENSP00000262304.4:p.Leu2723=
ENST00000415938.7:n.1414C>T
ENST00000423118.5:c.8169C>T	ENSP00000399501.1:p.Leu2723=
ENST00000483731.5:n.1894C>T
ENST00000486339.6:n.2305C>T
ENST00000487932.5:c.2856C>T	ENSP00000457132.1:p.Leu952=
ENST00000496574.6:n.2405C>T
ENST00000561991.5:n.691C>T
ENST00000565639.6:n.1877C>T
ENST00000567946.1:c.230C>T
NM_000296.3:c.8169C>T	NP_000287.3:p.Leu2723=
NM_001009944.2:c.8169C>T	NP_001009944.2:p.Leu2723=
XM_005255370.2:c.5124C>T	XP_005255427.1:p.Leu1708=
XM_011522525.1:c.8247C>T	XP_011520827.1:p.Leu2749=
XM_011522526.1:c.8247C>T	XP_011520828.1:p.Leu2749=
XM_011522527.1:c.8247C>T	XP_011520829.1:p.Leu2749=
XM_011522528.1:c.8223C>T	XP_011520830.1:p.Leu2741=
XM_011522529.1:c.8223C>T	XP_011520831.1:p.Leu2741=
XM_011522530.1:c.8193C>T	XP_011520832.1:p.Leu2731=
XM_011522531.1:c.8175C>T	XP_011520833.1:p.Leu2725=
XM_011522532.1:c.8121C>T	XP_011520834.1:p.Leu2707=
XM_011522533.1:c.8040C>T	XP_011520835.1:p.Leu2680=
XM_011522534.1:c.7983C>T	XP_011520836.1:p.Leu2661=
XM_011522535.1:c.6069C>T	XP_011520837.1:p.Leu2023=
XM_011522536.1:c.8247C>T	XP_011520838.1:p.Leu2749=
XM_011522537.1:c.5247C>T	XP_011520839.1:p.Leu1749=
XR_932867.1:n.8262C>T
XR_932868.1:n.8262C>T
XR_932869.1:n.8262C>T
XR_932870.1:n.8262C>T
XM_005255370.3:c.5124C>T	XP_005255427.1:p.Leu1708=
XM_011522528.3:c.8223C>T	XP_011520830.1:p.Leu2741=
XM_011522529.2:c.8223C>T	XP_011520831.1:p.Leu2741=
XM_011522537.2:c.5247C>T	XP_011520839.1:p.Leu1749=
XM_024450298.1:c.8289C>T	XP_024306066.1:p.Leu2763=
XM_024450299.1:c.8217C>T	XP_024306067.1:p.Leu2739=
XM_024450300.1:c.8079C>T	XP_024306068.1:p.Leu2693=
XM_024450301.1:c.6165C>T	XP_024306069.1:p.Leu2055=
NM_000296.4:c.8169C>T	NP_000287.4:p.Leu2723=
NM_001009944.3:c.8169C>T MANE Select	NP_001009944.3:p.Leu2723=