Canonical Allele Identifier: CA394324928

Gene: PKD1

Linked Data

• dbSNP Id: rs1596473289
• gnomAD v4: 16-2090347-C-G
• MyVariant Identifiers: chr16:g.2140348C>G (hg19) ; chr16:g.2090347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090347C>G , CM000678.2:g.2090347C>G	GRCh38
NC_000016.9:g.2140348C>G , CM000678.1:g.2140348C>G	GRCh37
NC_000016.8:g.2080349C>G	NCBI36
NG_005895.1:g.46042C>G , LRG_487:g.46042C>G
NG_008617.1:g.52874G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12382G>C MANE Select	ENSP00000262304.4:p.Glu4128Gln
ENST00000262304.8:c.12382G>C	ENSP00000262304.4:p.Glu4128Gln
ENST00000423118.5:c.12379G>C	ENSP00000399501.1:p.Glu4127Gln
ENST00000472577.1:n.410G>C
NM_000296.3:c.12379G>C	NP_000287.3:p.Glu4127Gln
NM_001009944.2:c.12382G>C	NP_001009944.2:p.Glu4128Gln
XM_005255370.2:c.9337G>C	XP_005255427.1:p.Glu3113Gln
XM_011522525.1:c.12460G>C	XP_011520827.1:p.Glu4154Gln
XM_011522526.1:c.12457G>C	XP_011520828.1:p.Glu4153Gln
XM_011522527.1:c.12442G>C	XP_011520829.1:p.Glu4148Gln
XM_011522528.1:c.12436G>C	XP_011520830.1:p.Glu4146Gln
XM_011522529.1:c.12433G>C	XP_011520831.1:p.Glu4145Gln
XM_011522530.1:c.12406G>C	XP_011520832.1:p.Glu4136Gln
XM_011522531.1:c.12388G>C	XP_011520833.1:p.Glu4130Gln
XM_011522532.1:c.12334G>C	XP_011520834.1:p.Glu4112Gln
XM_011522533.1:c.12253G>C	XP_011520835.1:p.Glu4085Gln
XM_011522534.1:c.12196G>C	XP_011520836.1:p.Glu4066Gln
XM_011522535.1:c.10282G>C	XP_011520837.1:p.Glu3428Gln
XM_011522537.1:c.9460G>C	XP_011520839.1:p.Glu3154Gln
XR_932867.1:n.12300G>C
XM_005255370.3:c.9337G>C	XP_005255427.1:p.Glu3113Gln
XM_011522528.3:c.12436G>C	XP_011520830.1:p.Glu4146Gln
XM_011522529.2:c.12433G>C	XP_011520831.1:p.Glu4145Gln
XM_011522537.2:c.9460G>C	XP_011520839.1:p.Glu3154Gln
XM_024450298.1:c.12502G>C	XP_024306066.1:p.Glu4168Gln
XM_024450299.1:c.12430G>C	XP_024306067.1:p.Glu4144Gln
XM_024450300.1:c.12292G>C	XP_024306068.1:p.Glu4098Gln
XM_024450301.1:c.10378G>C	XP_024306069.1:p.Glu3460Gln
NM_000296.4:c.12379G>C	NP_000287.4:p.Glu4127Gln
NM_001009944.3:c.12382G>C MANE Select	NP_001009944.3:p.Glu4128Gln