Canonical Allele Identifier: CA394325543

Gene: PKD1

Linked Data

• MyVariant Identifiers: chr16:g.2140420C>G (hg19) ; chr16:g.2090419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090419C>G , CM000678.2:g.2090419C>G	GRCh38
NC_000016.9:g.2140420C>G , CM000678.1:g.2140420C>G	GRCh37
NC_000016.8:g.2080421C>G	NCBI36
NG_005895.1:g.46114C>G , LRG_487:g.46114C>G
NG_008617.1:g.52802G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12310G>C MANE Select	ENSP00000262304.4:p.Val4104Leu
ENST00000262304.8:c.12310G>C	ENSP00000262304.4:p.Val4104Leu
ENST00000423118.5:c.12307G>C	ENSP00000399501.1:p.Val4103Leu
ENST00000472577.1:n.338G>C
NM_000296.3:c.12307G>C	NP_000287.3:p.Val4103Leu
NM_001009944.2:c.12310G>C	NP_001009944.2:p.Val4104Leu
XM_005255370.2:c.9265G>C	XP_005255427.1:p.Val3089Leu
XM_011522525.1:c.12388G>C	XP_011520827.1:p.Val4130Leu
XM_011522526.1:c.12385G>C	XP_011520828.1:p.Val4129Leu
XM_011522527.1:c.12370G>C	XP_011520829.1:p.Val4124Leu
XM_011522528.1:c.12364G>C	XP_011520830.1:p.Val4122Leu
XM_011522529.1:c.12361G>C	XP_011520831.1:p.Val4121Leu
XM_011522530.1:c.12334G>C	XP_011520832.1:p.Val4112Leu
XM_011522531.1:c.12316G>C	XP_011520833.1:p.Val4106Leu
XM_011522532.1:c.12262G>C	XP_011520834.1:p.Val4088Leu
XM_011522533.1:c.12181G>C	XP_011520835.1:p.Val4061Leu
XM_011522534.1:c.12124G>C	XP_011520836.1:p.Val4042Leu
XM_011522535.1:c.10210G>C	XP_011520837.1:p.Val3404Leu
XM_011522537.1:c.9388G>C	XP_011520839.1:p.Val3130Leu
XR_932867.1:n.12228G>C
XM_005255370.3:c.9265G>C	XP_005255427.1:p.Val3089Leu
XM_011522528.3:c.12364G>C	XP_011520830.1:p.Val4122Leu
XM_011522529.2:c.12361G>C	XP_011520831.1:p.Val4121Leu
XM_011522537.2:c.9388G>C	XP_011520839.1:p.Val3130Leu
XM_024450298.1:c.12430G>C	XP_024306066.1:p.Val4144Leu
XM_024450299.1:c.12358G>C	XP_024306067.1:p.Val4120Leu
XM_024450300.1:c.12220G>C	XP_024306068.1:p.Val4074Leu
XM_024450301.1:c.10306G>C	XP_024306069.1:p.Val3436Leu
NM_000296.4:c.12307G>C	NP_000287.4:p.Val4103Leu
NM_001009944.3:c.12310G>C MANE Select	NP_001009944.3:p.Val4104Leu