Canonical Allele Identifier: CA394324859

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140342C>A (hg19) ; chr16:g.2090341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090341C>A , CM000678.2:g.2090341C>A	GRCh38
NC_000016.9:g.2140342C>A , CM000678.1:g.2140342C>A	GRCh37
NC_000016.8:g.2080343C>A	NCBI36
NG_005895.1:g.46036C>A , LRG_487:g.46036C>A
NG_008617.1:g.52880G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12388G>T MANE Select	ENSP00000262304.4:p.Val4130Leu
ENST00000262304.8:c.12388G>T	ENSP00000262304.4:p.Val4130Leu
ENST00000423118.5:c.12385G>T	ENSP00000399501.1:p.Val4129Leu
ENST00000472577.1:n.416G>T
NM_000296.3:c.12385G>T	NP_000287.3:p.Val4129Leu
NM_001009944.2:c.12388G>T	NP_001009944.2:p.Val4130Leu
XM_005255370.2:c.9343G>T	XP_005255427.1:p.Val3115Leu
XM_011522525.1:c.12466G>T	XP_011520827.1:p.Val4156Leu
XM_011522526.1:c.12463G>T	XP_011520828.1:p.Val4155Leu
XM_011522527.1:c.12448G>T	XP_011520829.1:p.Val4150Leu
XM_011522528.1:c.12442G>T	XP_011520830.1:p.Val4148Leu
XM_011522529.1:c.12439G>T	XP_011520831.1:p.Val4147Leu
XM_011522530.1:c.12412G>T	XP_011520832.1:p.Val4138Leu
XM_011522531.1:c.12394G>T	XP_011520833.1:p.Val4132Leu
XM_011522532.1:c.12340G>T	XP_011520834.1:p.Val4114Leu
XM_011522533.1:c.12259G>T	XP_011520835.1:p.Val4087Leu
XM_011522534.1:c.12202G>T	XP_011520836.1:p.Val4068Leu
XM_011522535.1:c.10288G>T	XP_011520837.1:p.Val3430Leu
XM_011522537.1:c.9466G>T	XP_011520839.1:p.Val3156Leu
XR_932867.1:n.12306G>T
XM_005255370.3:c.9343G>T	XP_005255427.1:p.Val3115Leu
XM_011522528.3:c.12442G>T	XP_011520830.1:p.Val4148Leu
XM_011522529.2:c.12439G>T	XP_011520831.1:p.Val4147Leu
XM_011522537.2:c.9466G>T	XP_011520839.1:p.Val3156Leu
XM_024450298.1:c.12508G>T	XP_024306066.1:p.Val4170Leu
XM_024450299.1:c.12436G>T	XP_024306067.1:p.Val4146Leu
XM_024450300.1:c.12298G>T	XP_024306068.1:p.Val4100Leu
XM_024450301.1:c.10384G>T	XP_024306069.1:p.Val3462Leu
NM_000296.4:c.12385G>T	NP_000287.4:p.Val4129Leu
NM_001009944.3:c.12388G>T MANE Select	NP_001009944.3:p.Val4130Leu