Canonical Allele Identifier: CA394389610

Gene: PKD1

Linked Data

• dbSNP Id: rs370141157
• gnomAD v3: 16-2115436-T-C
• gnomAD v4: 16-2115436-T-C
• MyVariant Identifiers: chr16:g.2165437T>C (hg19) ; chr16:g.2115436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115436T>C , CM000678.2:g.2115436T>C	GRCh38
NC_000016.9:g.2165437T>C , CM000678.1:g.2165437T>C	GRCh37
NC_000016.8:g.2105438T>C	NCBI36
NG_008617.1:g.25463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2039A>G MANE Select	ENSP00000262304.4:p.Tyr680Cys
ENST00000262304.8:c.2039A>G	ENSP00000262304.4:p.Tyr680Cys
ENST00000423118.5:c.2039A>G	ENSP00000399501.1:p.Tyr680Cys
ENST00000488185.2:c.472+2053A>G
ENST00000568591.5:c.970A>G	ENSP00000457162.1:n.970A>G
NM_000296.3:c.2039A>G	NP_000287.3:p.Tyr680Cys
NM_001009944.2:c.2039A>G	NP_001009944.2:p.Tyr680Cys
XM_011522525.1:c.2093A>G	XP_011520827.1:p.Tyr698Cys
XM_011522526.1:c.2093A>G	XP_011520828.1:p.Tyr698Cys
XM_011522527.1:c.2093A>G	XP_011520829.1:p.Tyr698Cys
XM_011522528.1:c.2093A>G	XP_011520830.1:p.Tyr698Cys
XM_011522529.1:c.2093A>G	XP_011520831.1:p.Tyr698Cys
XM_011522530.1:c.2039A>G	XP_011520832.1:p.Tyr680Cys
XM_011522531.1:c.2021A>G	XP_011520833.1:p.Tyr674Cys
XM_011522532.1:c.1967A>G	XP_011520834.1:p.Tyr656Cys
XM_011522533.1:c.1886A>G	XP_011520835.1:p.Tyr629Cys
XM_011522534.1:c.1829A>G	XP_011520836.1:p.Tyr610Cys
XM_011522536.1:c.2093A>G	XP_011520838.1:p.Tyr698Cys
XR_932867.1:n.2108A>G
XR_932868.1:n.2108A>G
XR_932869.1:n.2108A>G
XR_932870.1:n.2108A>G
XM_011522528.3:c.2093A>G	XP_011520830.1:p.Tyr698Cys
XM_011522529.2:c.2093A>G	XP_011520831.1:p.Tyr698Cys
XM_024450298.1:c.2039A>G	XP_024306066.1:p.Tyr680Cys
XM_024450299.1:c.1967A>G	XP_024306067.1:p.Tyr656Cys
XM_024450300.1:c.1829A>G	XP_024306068.1:p.Tyr610Cys
NM_000296.4:c.2039A>G	NP_000287.4:p.Tyr680Cys
NM_001009944.3:c.2039A>G MANE Select	NP_001009944.3:p.Tyr680Cys