Canonical Allele Identifier: CA5275150

Gene: DOLPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129086246T>G , CM000671.2:g.129086246T>G	GRCh38
NC_000009.11:g.131848525T>G , CM000671.1:g.131848525T>G	GRCh37
NC_000009.10:g.130888346T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020438.5:c.569T>G MANE Select	NP_065171.2:p.Leu190Arg
ENST00000372546.9:c.569T>G MANE Select	ENSP00000361625.4:p.Leu190Arg
NM_001135917.1:c.462-463T>G	NP_001129389.1:n.462-463T>G
NM_001135917.2:c.462-463T>G	NP_001129389.1:n.462-463T>G
NM_020438.4:c.569T>G	NP_065171.2:p.Leu190Arg
NR_072983.1:n.405-463T>G
NR_072983.2:n.398-463T>G
ENST00000327812.12:c.375-463T>G
ENST00000372546.8:c.569T>G	ENSP00000361625.4:p.Leu190Arg
ENST00000406974.7:c.462-463T>G	ENSP00000384043.3:n.462-463T>G
ENST00000412363.1:c.270-463T>G
XR_002956797.1:n.1235T>G