Canonical Allele Identifier: CA174619

Gene: PKD2L1

Linked Data

• ClinVar Variation Id: 161699
• ClinVar RCV Id: RCV000149235
• dbSNP Id: rs193920845
• gnomAD v2: 10-102089791-C-T
• gnomAD v3: 10-100330034-C-T
• gnomAD v4: 10-100330034-C-T
• COSMIC: COSM1179706
• MyVariant Identifiers: chr10:g.102089791C>T (hg19) ; chr10:g.100330034C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100330034C>T , CM000672.2:g.100330034C>T	GRCh38
NC_000010.10:g.102089791C>T , CM000672.1:g.102089791C>T	GRCh37
NC_000010.9:g.102079781C>T	NCBI36
NG_047099.1:g.21491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318222.4:c.70G>A MANE Select	ENSP00000325296.3:p.Ala24Thr
ENST00000318222.3:c.70G>A	ENSP00000325296.3:p.Ala24Thr
ENST00000532547.1:c.70G>A	ENSP00000434224.1:p.Ala24Thr
NM_001253837.1:c.-94G>A	NP_001240766.1:n.-94G>A
NM_016112.2:c.70G>A	NP_057196.2:p.Ala24Thr
XM_011540321.1:c.70G>A	XP_011538623.1:p.Ala24Thr
XM_011540322.1:c.70G>A	XP_011538624.1:p.Ala24Thr
XM_011540323.1:c.58+6947G>A	XP_011538625.1:n.58+6947G>A
XM_011540324.1:c.58+6947G>A	XP_011538626.1:n.58+6947G>A
XM_011540325.1:c.-12+5621G>A	XP_011538627.1:n.-12+5621G>A
XR_945861.1:n.343G>A
XM_011540323.3:c.58+6947G>A	XP_011538625.1:n.58+6947G>A
XM_011540325.3:c.-12+5621G>A	XP_011538627.1:n.-12+5621G>A
XM_017016875.2:c.58+6947G>A	XP_016872364.1:n.58+6947G>A
XM_017016876.1:c.100+6947G>A	XP_016872365.1:n.100+6947G>A
NM_016112.3:c.70G>A MANE Select	NP_057196.2:p.Ala24Thr
NM_001253837.2:c.-94G>A	NP_001240766.1:n.-94G>A