Canonical Allele Identifier: CA394382827

Gene: PKD1

Linked Data

• gnomAD v4: 16-2111591-C-A
• MyVariant Identifiers: chr16:g.2161592C>A (hg19) ; chr16:g.2111591C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111591C>A , CM000678.2:g.2111591C>A	GRCh38
NC_000016.9:g.2161592C>A , CM000678.1:g.2161592C>A	GRCh37
NC_000016.8:g.2101593C>A	NCBI36
NG_008617.1:g.29308G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3576G>T MANE Select	ENSP00000262304.4:p.Glu1192Asp
ENST00000262304.8:c.3576G>T	ENSP00000262304.4:p.Glu1192Asp
ENST00000415938.7:n.310+749G>T
ENST00000423118.5:c.3576G>T	ENSP00000399501.1:p.Glu1192Asp
ENST00000468674.5:n.430+749G>T
ENST00000469241.2:n.526G>T
ENST00000483024.1:c.233+225G>T
ENST00000483731.5:n.790+749G>T
ENST00000488185.2:c.473-3233G>T
ENST00000565639.6:n.773+749G>T
ENST00000568591.5:c.2226+749G>T	ENSP00000457162.1:n.2226+749G>T
ENST00000569983.5:n.421+749G>T
NM_000296.3:c.3576G>T	NP_000287.3:p.Glu1192Asp
NM_001009944.2:c.3576G>T	NP_001009944.2:p.Glu1192Asp
XM_005255370.2:c.531G>T	XP_005255427.1:p.Glu177Asp
XM_011522525.1:c.3654G>T	XP_011520827.1:p.Glu1218Asp
XM_011522526.1:c.3654G>T	XP_011520828.1:p.Glu1218Asp
XM_011522527.1:c.3654G>T	XP_011520829.1:p.Glu1218Asp
XM_011522528.1:c.3630G>T	XP_011520830.1:p.Glu1210Asp
XM_011522529.1:c.3630G>T	XP_011520831.1:p.Glu1210Asp
XM_011522530.1:c.3600G>T	XP_011520832.1:p.Glu1200Asp
XM_011522531.1:c.3582G>T	XP_011520833.1:p.Glu1194Asp
XM_011522532.1:c.3528G>T	XP_011520834.1:p.Glu1176Asp
XM_011522533.1:c.3447G>T	XP_011520835.1:p.Glu1149Asp
XM_011522534.1:c.3390G>T	XP_011520836.1:p.Glu1130Asp
XM_011522535.1:c.1476G>T	XP_011520837.1:p.Glu492Asp
XM_011522536.1:c.3654G>T	XP_011520838.1:p.Glu1218Asp
XM_011522537.1:c.654G>T	XP_011520839.1:p.Glu218Asp
XR_932867.1:n.3669G>T
XR_932868.1:n.3669G>T
XR_932869.1:n.3669G>T
XR_932870.1:n.3669G>T
XM_005255370.3:c.531G>T	XP_005255427.1:p.Glu177Asp
XM_011522528.3:c.3630G>T	XP_011520830.1:p.Glu1210Asp
XM_011522529.2:c.3630G>T	XP_011520831.1:p.Glu1210Asp
XM_011522537.2:c.654G>T	XP_011520839.1:p.Glu218Asp
XM_024450298.1:c.3696G>T	XP_024306066.1:p.Glu1232Asp
XM_024450299.1:c.3624G>T	XP_024306067.1:p.Glu1208Asp
XM_024450300.1:c.3486G>T	XP_024306068.1:p.Glu1162Asp
XM_024450301.1:c.1572G>T	XP_024306069.1:p.Glu524Asp
NM_000296.4:c.3576G>T	NP_000287.4:p.Glu1192Asp
NM_001009944.3:c.3576G>T MANE Select	NP_001009944.3:p.Glu1192Asp