Canonical Allele Identifier: CA658863300

Gene: PKD2L1

Linked Data

• dbSNP Id: rs1226723915
• gnomAD v3: 10-100315671-G-A
• gnomAD v4: 10-100315671-G-A
• MyVariant Identifiers: chr10:g.102075428G>A (hg19) ; chr10:g.100315671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100315671G>A , CM000672.2:g.100315671G>A	GRCh38
NC_000010.10:g.102075428G>A , CM000672.1:g.102075428G>A	GRCh37
NC_000010.9:g.102065418G>A	NCBI36
NG_047099.1:g.35854C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318222.4:c.349+13540C>T MANE Select	ENSP00000325296.3:n.349+13540C>T
ENST00000318222.3:c.349+13540C>T	ENSP00000325296.3:n.349+13540C>T
ENST00000465680.2:c.104+14198C>T
ENST00000528248.1:c.208+13540C>T
ENST00000532547.1:c.*93+13540C>T	ENSP00000434224.1:n.*93+13540C>T
NM_001253837.1:c.208+13540C>T	NP_001240766.1:n.208+13540C>T
NM_016112.2:c.349+13540C>T	NP_057196.2:n.349+13540C>T
XM_011540321.1:c.349+13540C>T	XP_011538623.1:n.349+13540C>T
XM_011540322.1:c.349+13540C>T	XP_011538624.1:n.349+13540C>T
XM_011540323.1:c.59-15953C>T	XP_011538625.1:n.59-15953C>T
XM_011540324.1:c.59-15953C>T	XP_011538626.1:n.59-15953C>T
XM_011540325.1:c.-11-15953C>T	XP_011538627.1:n.-11-15953C>T
XR_945861.1:n.622+13540C>T
XM_011540323.3:c.59-15953C>T	XP_011538625.1:n.59-15953C>T
XM_011540325.3:c.-11-15953C>T	XP_011538627.1:n.-11-15953C>T
XM_017016875.2:c.59-15953C>T	XP_016872364.1:n.59-15953C>T
XM_017016876.1:c.101-15953C>T	XP_016872365.1:n.101-15953C>T
NM_016112.3:c.349+13540C>T MANE Select	NP_057196.2:n.349+13540C>T
NM_001253837.2:c.208+13540C>T	NP_001240766.1:n.208+13540C>T