Canonical Allele Identifier: CA394282105

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2135473A>C , CM000678.2:g.2135473A>C	GRCh38
NC_000016.9:g.2185474A>C , CM000678.1:g.2185474A>C	GRCh37
NC_000016.8:g.2125475A>C	NCBI36
NG_008617.1:g.5426T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.215+2T>G MANE Select	NP_001009944.3:n.215+2T>G
ENST00000262304.9:c.215+2T>G MANE Select	ENSP00000262304.4:n.215+2T>G
NM_000296.3:c.215+2T>G	NP_000287.3:n.215+2T>G
NM_000296.4:c.215+2T>G	NP_000287.4:n.215+2T>G
NM_001009944.2:c.215+2T>G	NP_001009944.2:n.215+2T>G
ENST00000262304.8:c.215+2T>G	ENSP00000262304.4:n.215+2T>G
ENST00000423118.5:c.215+2T>G	ENSP00000399501.1:n.215+2T>G
XM_011522530.1:c.215+2T>G	XP_011520832.1:n.215+2T>G
XM_011522532.1:c.215+2T>G	XP_011520834.1:n.215+2T>G
XM_024450298.1:c.215+2T>G	XP_024306066.1:n.215+2T>G
XM_024450299.1:c.215+2T>G	XP_024306067.1:n.215+2T>G