Canonical Allele Identifier: CA394383009

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111683-C-G
• MyVariant Identifiers: chr16:g.2161684C>G (hg19) ; chr16:g.2111683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111683C>G , CM000678.2:g.2111683C>G	GRCh38
NC_000016.9:g.2161684C>G , CM000678.1:g.2161684C>G	GRCh37
NC_000016.8:g.2101685C>G	NCBI36
NG_008617.1:g.29216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3484G>C MANE Select	ENSP00000262304.4:p.Asp1162His
ENST00000262304.8:c.3484G>C	ENSP00000262304.4:p.Asp1162His
ENST00000415938.7:n.310+657G>C
ENST00000423118.5:c.3484G>C	ENSP00000399501.1:p.Asp1162His
ENST00000468674.5:n.430+657G>C
ENST00000469241.2:n.434G>C
ENST00000483024.1:c.233+133G>C
ENST00000483731.5:n.790+657G>C
ENST00000488185.2:c.473-3325G>C
ENST00000565639.6:n.773+657G>C
ENST00000568591.5:c.2226+657G>C	ENSP00000457162.1:n.2226+657G>C
ENST00000569983.5:n.421+657G>C
NM_000296.3:c.3484G>C	NP_000287.3:p.Asp1162His
NM_001009944.2:c.3484G>C	NP_001009944.2:p.Asp1162His
XM_005255370.2:c.439G>C	XP_005255427.1:p.Asp147His
XM_011522525.1:c.3562G>C	XP_011520827.1:p.Asp1188His
XM_011522526.1:c.3562G>C	XP_011520828.1:p.Asp1188His
XM_011522527.1:c.3562G>C	XP_011520829.1:p.Asp1188His
XM_011522528.1:c.3538G>C	XP_011520830.1:p.Asp1180His
XM_011522529.1:c.3538G>C	XP_011520831.1:p.Asp1180His
XM_011522530.1:c.3508G>C	XP_011520832.1:p.Asp1170His
XM_011522531.1:c.3490G>C	XP_011520833.1:p.Asp1164His
XM_011522532.1:c.3436G>C	XP_011520834.1:p.Asp1146His
XM_011522533.1:c.3355G>C	XP_011520835.1:p.Asp1119His
XM_011522534.1:c.3298G>C	XP_011520836.1:p.Asp1100His
XM_011522535.1:c.1384G>C	XP_011520837.1:p.Asp462His
XM_011522536.1:c.3562G>C	XP_011520838.1:p.Asp1188His
XM_011522537.1:c.562G>C	XP_011520839.1:p.Asp188His
XR_932867.1:n.3577G>C
XR_932868.1:n.3577G>C
XR_932869.1:n.3577G>C
XR_932870.1:n.3577G>C
XM_005255370.3:c.439G>C	XP_005255427.1:p.Asp147His
XM_011522528.3:c.3538G>C	XP_011520830.1:p.Asp1180His
XM_011522529.2:c.3538G>C	XP_011520831.1:p.Asp1180His
XM_011522537.2:c.562G>C	XP_011520839.1:p.Asp188His
XM_024450298.1:c.3604G>C	XP_024306066.1:p.Asp1202His
XM_024450299.1:c.3532G>C	XP_024306067.1:p.Asp1178His
XM_024450300.1:c.3394G>C	XP_024306068.1:p.Asp1132His
XM_024450301.1:c.1480G>C	XP_024306069.1:p.Asp494His
NM_000296.4:c.3484G>C	NP_000287.4:p.Asp1162His
NM_001009944.3:c.3484G>C MANE Select	NP_001009944.3:p.Asp1162His