Canonical Allele Identifier: CA931771374

Gene: PKD2L1

Linked Data

• dbSNP Id: rs1849087130
• gnomAD v3: 10-100315737-C-T
• gnomAD v4: 10-100315737-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100315737C>T , CM000672.2:g.100315737C>T	GRCh38
NC_000010.10:g.102075494C>T , CM000672.1:g.102075494C>T	GRCh37
NC_000010.9:g.102065484C>T	NCBI36
NG_047099.1:g.35788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318222.4:c.349+13474G>A MANE Select	ENSP00000325296.3:n.349+13474G>A
ENST00000318222.3:c.349+13474G>A	ENSP00000325296.3:n.349+13474G>A
ENST00000465680.2:c.104+14132G>A
ENST00000528248.1:c.208+13474G>A
ENST00000532547.1:c.*93+13474G>A	ENSP00000434224.1:n.*93+13474G>A
NM_001253837.1:c.208+13474G>A	NP_001240766.1:n.208+13474G>A
NM_016112.2:c.349+13474G>A	NP_057196.2:n.349+13474G>A
XM_011540321.1:c.349+13474G>A	XP_011538623.1:n.349+13474G>A
XM_011540322.1:c.349+13474G>A	XP_011538624.1:n.349+13474G>A
XM_011540323.1:c.59-16019G>A	XP_011538625.1:n.59-16019G>A
XM_011540324.1:c.59-16019G>A	XP_011538626.1:n.59-16019G>A
XM_011540325.1:c.-11-16019G>A	XP_011538627.1:n.-11-16019G>A
XR_945861.1:n.622+13474G>A
XM_011540323.3:c.59-16019G>A	XP_011538625.1:n.59-16019G>A
XM_011540325.3:c.-11-16019G>A	XP_011538627.1:n.-11-16019G>A
XM_017016875.2:c.59-16019G>A	XP_016872364.1:n.59-16019G>A
XM_017016876.1:c.101-16019G>A	XP_016872365.1:n.101-16019G>A
NM_016112.3:c.349+13474G>A MANE Select	NP_057196.2:n.349+13474G>A
NM_001253837.2:c.208+13474G>A	NP_001240766.1:n.208+13474G>A