Canonical Allele Identifier: CA394325102

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140369C>G (hg19) ; chr16:g.2090368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090368C>G , CM000678.2:g.2090368C>G	GRCh38
NC_000016.9:g.2140369C>G , CM000678.1:g.2140369C>G	GRCh37
NC_000016.8:g.2080370C>G	NCBI36
NG_005895.1:g.46063C>G , LRG_487:g.46063C>G
NG_008617.1:g.52853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12361G>C MANE Select	ENSP00000262304.4:p.Ala4121Pro
ENST00000262304.8:c.12361G>C	ENSP00000262304.4:p.Ala4121Pro
ENST00000423118.5:c.12358G>C	ENSP00000399501.1:p.Ala4120Pro
ENST00000472577.1:n.389G>C
NM_000296.3:c.12358G>C	NP_000287.3:p.Ala4120Pro
NM_001009944.2:c.12361G>C	NP_001009944.2:p.Ala4121Pro
XM_005255370.2:c.9316G>C	XP_005255427.1:p.Ala3106Pro
XM_011522525.1:c.12439G>C	XP_011520827.1:p.Ala4147Pro
XM_011522526.1:c.12436G>C	XP_011520828.1:p.Ala4146Pro
XM_011522527.1:c.12421G>C	XP_011520829.1:p.Ala4141Pro
XM_011522528.1:c.12415G>C	XP_011520830.1:p.Ala4139Pro
XM_011522529.1:c.12412G>C	XP_011520831.1:p.Ala4138Pro
XM_011522530.1:c.12385G>C	XP_011520832.1:p.Ala4129Pro
XM_011522531.1:c.12367G>C	XP_011520833.1:p.Ala4123Pro
XM_011522532.1:c.12313G>C	XP_011520834.1:p.Ala4105Pro
XM_011522533.1:c.12232G>C	XP_011520835.1:p.Ala4078Pro
XM_011522534.1:c.12175G>C	XP_011520836.1:p.Ala4059Pro
XM_011522535.1:c.10261G>C	XP_011520837.1:p.Ala3421Pro
XM_011522537.1:c.9439G>C	XP_011520839.1:p.Ala3147Pro
XR_932867.1:n.12279G>C
XM_005255370.3:c.9316G>C	XP_005255427.1:p.Ala3106Pro
XM_011522528.3:c.12415G>C	XP_011520830.1:p.Ala4139Pro
XM_011522529.2:c.12412G>C	XP_011520831.1:p.Ala4138Pro
XM_011522537.2:c.9439G>C	XP_011520839.1:p.Ala3147Pro
XM_024450298.1:c.12481G>C	XP_024306066.1:p.Ala4161Pro
XM_024450299.1:c.12409G>C	XP_024306067.1:p.Ala4137Pro
XM_024450300.1:c.12271G>C	XP_024306068.1:p.Ala4091Pro
XM_024450301.1:c.10357G>C	XP_024306069.1:p.Ala3453Pro
NM_000296.4:c.12358G>C	NP_000287.4:p.Ala4120Pro
NM_001009944.3:c.12361G>C MANE Select	NP_001009944.3:p.Ala4121Pro