Canonical Allele Identifier: CA394389509

Gene: PKD1

Linked Data

• gnomAD v4: 16-2115406-A-G
• MyVariant Identifiers: chr16:g.2165407A>G (hg19) ; chr16:g.2115406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115406A>G , CM000678.2:g.2115406A>G	GRCh38
NC_000016.9:g.2165407A>G , CM000678.1:g.2165407A>G	GRCh37
NC_000016.8:g.2105408A>G	NCBI36
NG_008617.1:g.25493T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2069T>C MANE Select	ENSP00000262304.4:p.Val690Ala
ENST00000262304.8:c.2069T>C	ENSP00000262304.4:p.Val690Ala
ENST00000423118.5:c.2069T>C	ENSP00000399501.1:p.Val690Ala
ENST00000488185.2:c.472+2083T>C
ENST00000568591.5:c.1000T>C	ENSP00000457162.1:n.1000T>C
NM_000296.3:c.2069T>C	NP_000287.3:p.Val690Ala
NM_001009944.2:c.2069T>C	NP_001009944.2:p.Val690Ala
XM_011522525.1:c.2123T>C	XP_011520827.1:p.Val708Ala
XM_011522526.1:c.2123T>C	XP_011520828.1:p.Val708Ala
XM_011522527.1:c.2123T>C	XP_011520829.1:p.Val708Ala
XM_011522528.1:c.2123T>C	XP_011520830.1:p.Val708Ala
XM_011522529.1:c.2123T>C	XP_011520831.1:p.Val708Ala
XM_011522530.1:c.2069T>C	XP_011520832.1:p.Val690Ala
XM_011522531.1:c.2051T>C	XP_011520833.1:p.Val684Ala
XM_011522532.1:c.1997T>C	XP_011520834.1:p.Val666Ala
XM_011522533.1:c.1916T>C	XP_011520835.1:p.Val639Ala
XM_011522534.1:c.1859T>C	XP_011520836.1:p.Val620Ala
XM_011522536.1:c.2123T>C	XP_011520838.1:p.Val708Ala
XR_932867.1:n.2138T>C
XR_932868.1:n.2138T>C
XR_932869.1:n.2138T>C
XR_932870.1:n.2138T>C
XM_011522528.3:c.2123T>C	XP_011520830.1:p.Val708Ala
XM_011522529.2:c.2123T>C	XP_011520831.1:p.Val708Ala
XM_024450298.1:c.2069T>C	XP_024306066.1:p.Val690Ala
XM_024450299.1:c.1997T>C	XP_024306067.1:p.Val666Ala
XM_024450300.1:c.1859T>C	XP_024306068.1:p.Val620Ala
NM_000296.4:c.2069T>C	NP_000287.4:p.Val690Ala
NM_001009944.3:c.2069T>C MANE Select	NP_001009944.3:p.Val690Ala