Canonical Allele Identifier: CA394325903

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140467A>G (hg19) ; chr16:g.2090466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090466A>G , CM000678.2:g.2090466A>G	GRCh38
NC_000016.9:g.2140467A>G , CM000678.1:g.2140467A>G	GRCh37
NC_000016.8:g.2080468A>G	NCBI36
NG_005895.1:g.46161A>G , LRG_487:g.46161A>G
NG_008617.1:g.52755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12263T>C MANE Select	ENSP00000262304.4:p.Val4088Ala
ENST00000262304.8:c.12263T>C	ENSP00000262304.4:p.Val4088Ala
ENST00000423118.5:c.12260T>C	ENSP00000399501.1:p.Val4087Ala
ENST00000472577.1:n.291T>C
NM_000296.3:c.12260T>C	NP_000287.3:p.Val4087Ala
NM_001009944.2:c.12263T>C	NP_001009944.2:p.Val4088Ala
XM_005255370.2:c.9218T>C	XP_005255427.1:p.Val3073Ala
XM_011522525.1:c.12341T>C	XP_011520827.1:p.Val4114Ala
XM_011522526.1:c.12338T>C	XP_011520828.1:p.Val4113Ala
XM_011522527.1:c.12323T>C	XP_011520829.1:p.Val4108Ala
XM_011522528.1:c.12317T>C	XP_011520830.1:p.Val4106Ala
XM_011522529.1:c.12314T>C	XP_011520831.1:p.Val4105Ala
XM_011522530.1:c.12287T>C	XP_011520832.1:p.Val4096Ala
XM_011522531.1:c.12269T>C	XP_011520833.1:p.Val4090Ala
XM_011522532.1:c.12215T>C	XP_011520834.1:p.Val4072Ala
XM_011522533.1:c.12134T>C	XP_011520835.1:p.Val4045Ala
XM_011522534.1:c.12077T>C	XP_011520836.1:p.Val4026Ala
XM_011522535.1:c.10163T>C	XP_011520837.1:p.Val3388Ala
XM_011522537.1:c.9341T>C	XP_011520839.1:p.Val3114Ala
XR_932867.1:n.12181T>C
XM_005255370.3:c.9218T>C	XP_005255427.1:p.Val3073Ala
XM_011522528.3:c.12317T>C	XP_011520830.1:p.Val4106Ala
XM_011522529.2:c.12314T>C	XP_011520831.1:p.Val4105Ala
XM_011522537.2:c.9341T>C	XP_011520839.1:p.Val3114Ala
XM_024450298.1:c.12383T>C	XP_024306066.1:p.Val4128Ala
XM_024450299.1:c.12311T>C	XP_024306067.1:p.Val4104Ala
XM_024450300.1:c.12173T>C	XP_024306068.1:p.Val4058Ala
XM_024450301.1:c.10259T>C	XP_024306069.1:p.Val3420Ala
NM_000296.4:c.12260T>C	NP_000287.4:p.Val4087Ala
NM_001009944.3:c.12263T>C MANE Select	NP_001009944.3:p.Val4088Ala