Canonical Allele Identifier: CA394389513

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2165408C>G (hg19) ; chr16:g.2115407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115407C>G , CM000678.2:g.2115407C>G	GRCh38
NC_000016.9:g.2165408C>G , CM000678.1:g.2165408C>G	GRCh37
NC_000016.8:g.2105409C>G	NCBI36
NG_008617.1:g.25492G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2068G>C MANE Select	ENSP00000262304.4:p.Val690Leu
ENST00000262304.8:c.2068G>C	ENSP00000262304.4:p.Val690Leu
ENST00000423118.5:c.2068G>C	ENSP00000399501.1:p.Val690Leu
ENST00000488185.2:c.472+2082G>C
ENST00000568591.5:c.999G>C	ENSP00000457162.1:n.999G>C
NM_000296.3:c.2068G>C	NP_000287.3:p.Val690Leu
NM_001009944.2:c.2068G>C	NP_001009944.2:p.Val690Leu
XM_011522525.1:c.2122G>C	XP_011520827.1:p.Val708Leu
XM_011522526.1:c.2122G>C	XP_011520828.1:p.Val708Leu
XM_011522527.1:c.2122G>C	XP_011520829.1:p.Val708Leu
XM_011522528.1:c.2122G>C	XP_011520830.1:p.Val708Leu
XM_011522529.1:c.2122G>C	XP_011520831.1:p.Val708Leu
XM_011522530.1:c.2068G>C	XP_011520832.1:p.Val690Leu
XM_011522531.1:c.2050G>C	XP_011520833.1:p.Val684Leu
XM_011522532.1:c.1996G>C	XP_011520834.1:p.Val666Leu
XM_011522533.1:c.1915G>C	XP_011520835.1:p.Val639Leu
XM_011522534.1:c.1858G>C	XP_011520836.1:p.Val620Leu
XM_011522536.1:c.2122G>C	XP_011520838.1:p.Val708Leu
XR_932867.1:n.2137G>C
XR_932868.1:n.2137G>C
XR_932869.1:n.2137G>C
XR_932870.1:n.2137G>C
XM_011522528.3:c.2122G>C	XP_011520830.1:p.Val708Leu
XM_011522529.2:c.2122G>C	XP_011520831.1:p.Val708Leu
XM_024450298.1:c.2068G>C	XP_024306066.1:p.Val690Leu
XM_024450299.1:c.1996G>C	XP_024306067.1:p.Val666Leu
XM_024450300.1:c.1858G>C	XP_024306068.1:p.Val620Leu
NM_000296.4:c.2068G>C	NP_000287.4:p.Val690Leu
NM_001009944.3:c.2068G>C MANE Select	NP_001009944.3:p.Val690Leu