Canonical Allele Identifier: CA394393084

Gene: PKD1

Linked Data

• dbSNP Id: rs1255288220
• gnomAD v4: 16-2117839-G-C
• MyVariant Identifiers: chr16:g.2167840G>C (hg19) ; chr16:g.2117839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2117839G>C , CM000678.2:g.2117839G>C	GRCh38
NC_000016.9:g.2167840G>C , CM000678.1:g.2167840G>C	GRCh37
NC_000016.8:g.2107841G>C	NCBI36
NG_008617.1:g.23060C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.1153C>G MANE Select	ENSP00000262304.4:p.Leu385Val
ENST00000262304.8:c.1153C>G	ENSP00000262304.4:p.Leu385Val
ENST00000423118.5:c.1153C>G	ENSP00000399501.1:p.Leu385Val
ENST00000488185.2:c.240C>G
ENST00000568591.5:c.121C>G	ENSP00000457162.1:p.Leu41Val
ENST00000570150.1:n.286C>G
NM_000296.3:c.1153C>G	NP_000287.3:p.Leu385Val
NM_001009944.2:c.1153C>G	NP_001009944.2:p.Leu385Val
XM_011522525.1:c.1207C>G	XP_011520827.1:p.Leu403Val
XM_011522526.1:c.1207C>G	XP_011520828.1:p.Leu403Val
XM_011522527.1:c.1207C>G	XP_011520829.1:p.Leu403Val
XM_011522528.1:c.1207C>G	XP_011520830.1:p.Leu403Val
XM_011522529.1:c.1207C>G	XP_011520831.1:p.Leu403Val
XM_011522530.1:c.1153C>G	XP_011520832.1:p.Leu385Val
XM_011522531.1:c.1135C>G	XP_011520833.1:p.Leu379Val
XM_011522532.1:c.1081C>G	XP_011520834.1:p.Leu361Val
XM_011522533.1:c.1000C>G	XP_011520835.1:p.Leu334Val
XM_011522534.1:c.943C>G	XP_011520836.1:p.Leu315Val
XM_011522536.1:c.1207C>G	XP_011520838.1:p.Leu403Val
XR_932867.1:n.1222C>G
XR_932868.1:n.1222C>G
XR_932869.1:n.1222C>G
XR_932870.1:n.1222C>G
XM_011522528.3:c.1207C>G	XP_011520830.1:p.Leu403Val
XM_011522529.2:c.1207C>G	XP_011520831.1:p.Leu403Val
XM_024450298.1:c.1153C>G	XP_024306066.1:p.Leu385Val
XM_024450299.1:c.1081C>G	XP_024306067.1:p.Leu361Val
XM_024450300.1:c.943C>G	XP_024306068.1:p.Leu315Val
NM_000296.4:c.1153C>G	NP_000287.4:p.Leu385Val
NM_001009944.3:c.1153C>G MANE Select	NP_001009944.3:p.Leu385Val