Canonical Allele Identifier: CA493044426

Gene: PKD1

Linked Data

• gnomAD v4: 16-2090432-T-G
• MyVariant Identifiers: chr16:g.2140433T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090432T>G , CM000678.2:g.2090432T>G	GRCh38
NC_000016.9:g.2140433T>G , CM000678.1:g.2140433T>G	GRCh37
NC_000016.8:g.2080434T>G	NCBI36
NG_005895.1:g.46127T>G , LRG_487:g.46127T>G
NG_008617.1:g.52789A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12297A>C MANE Select	ENSP00000262304.4:p.Leu4099=
ENST00000262304.8:c.12297A>C	ENSP00000262304.4:p.Leu4099=
ENST00000423118.5:c.12294A>C	ENSP00000399501.1:p.Leu4098=
ENST00000472577.1:n.325A>C
NM_000296.3:c.12294A>C	NP_000287.3:p.Leu4098=
NM_001009944.2:c.12297A>C	NP_001009944.2:p.Leu4099=
XM_005255370.2:c.9252A>C	XP_005255427.1:p.Leu3084=
XM_011522525.1:c.12375A>C	XP_011520827.1:p.Leu4125=
XM_011522526.1:c.12372A>C	XP_011520828.1:p.Leu4124=
XM_011522527.1:c.12357A>C	XP_011520829.1:p.Leu4119=
XM_011522528.1:c.12351A>C	XP_011520830.1:p.Leu4117=
XM_011522529.1:c.12348A>C	XP_011520831.1:p.Leu4116=
XM_011522530.1:c.12321A>C	XP_011520832.1:p.Leu4107=
XM_011522531.1:c.12303A>C	XP_011520833.1:p.Leu4101=
XM_011522532.1:c.12249A>C	XP_011520834.1:p.Leu4083=
XM_011522533.1:c.12168A>C	XP_011520835.1:p.Leu4056=
XM_011522534.1:c.12111A>C	XP_011520836.1:p.Leu4037=
XM_011522535.1:c.10197A>C	XP_011520837.1:p.Leu3399=
XM_011522537.1:c.9375A>C	XP_011520839.1:p.Leu3125=
XR_932867.1:n.12215A>C
XM_005255370.3:c.9252A>C	XP_005255427.1:p.Leu3084=
XM_011522528.3:c.12351A>C	XP_011520830.1:p.Leu4117=
XM_011522529.2:c.12348A>C	XP_011520831.1:p.Leu4116=
XM_011522537.2:c.9375A>C	XP_011520839.1:p.Leu3125=
XM_024450298.1:c.12417A>C	XP_024306066.1:p.Leu4139=
XM_024450299.1:c.12345A>C	XP_024306067.1:p.Leu4115=
XM_024450300.1:c.12207A>C	XP_024306068.1:p.Leu4069=
XM_024450301.1:c.10293A>C	XP_024306069.1:p.Leu3431=
NM_000296.4:c.12294A>C	NP_000287.4:p.Leu4098=
NM_001009944.3:c.12297A>C MANE Select	NP_001009944.3:p.Leu4099=