Canonical Allele Identifier: CA493044551

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140466C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090465C>G , CM000678.2:g.2090465C>G	GRCh38
NC_000016.9:g.2140466C>G , CM000678.1:g.2140466C>G	GRCh37
NC_000016.8:g.2080467C>G	NCBI36
NG_005895.1:g.46160C>G , LRG_487:g.46160C>G
NG_008617.1:g.52756G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12264G>C MANE Select	ENSP00000262304.4:p.Val4088=
ENST00000262304.8:c.12264G>C	ENSP00000262304.4:p.Val4088=
ENST00000423118.5:c.12261G>C	ENSP00000399501.1:p.Val4087=
ENST00000472577.1:n.292G>C
NM_000296.3:c.12261G>C	NP_000287.3:p.Val4087=
NM_001009944.2:c.12264G>C	NP_001009944.2:p.Val4088=
XM_005255370.2:c.9219G>C	XP_005255427.1:p.Val3073=
XM_011522525.1:c.12342G>C	XP_011520827.1:p.Val4114=
XM_011522526.1:c.12339G>C	XP_011520828.1:p.Val4113=
XM_011522527.1:c.12324G>C	XP_011520829.1:p.Val4108=
XM_011522528.1:c.12318G>C	XP_011520830.1:p.Val4106=
XM_011522529.1:c.12315G>C	XP_011520831.1:p.Val4105=
XM_011522530.1:c.12288G>C	XP_011520832.1:p.Val4096=
XM_011522531.1:c.12270G>C	XP_011520833.1:p.Val4090=
XM_011522532.1:c.12216G>C	XP_011520834.1:p.Val4072=
XM_011522533.1:c.12135G>C	XP_011520835.1:p.Val4045=
XM_011522534.1:c.12078G>C	XP_011520836.1:p.Val4026=
XM_011522535.1:c.10164G>C	XP_011520837.1:p.Val3388=
XM_011522537.1:c.9342G>C	XP_011520839.1:p.Val3114=
XR_932867.1:n.12182G>C
XM_005255370.3:c.9219G>C	XP_005255427.1:p.Val3073=
XM_011522528.3:c.12318G>C	XP_011520830.1:p.Val4106=
XM_011522529.2:c.12315G>C	XP_011520831.1:p.Val4105=
XM_011522537.2:c.9342G>C	XP_011520839.1:p.Val3114=
XM_024450298.1:c.12384G>C	XP_024306066.1:p.Val4128=
XM_024450299.1:c.12312G>C	XP_024306067.1:p.Val4104=
XM_024450300.1:c.12174G>C	XP_024306068.1:p.Val4058=
XM_024450301.1:c.10260G>C	XP_024306069.1:p.Val3420=
NM_000296.4:c.12261G>C	NP_000287.4:p.Val4087=
NM_001009944.3:c.12264G>C MANE Select	NP_001009944.3:p.Val4088=