Canonical Allele Identifier: CA3583156

Gene: DBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177467559G>A , CM000667.2:g.177467559G>A	GRCh38
NC_000005.9:g.176894560G>A , CM000667.1:g.176894560G>A	GRCh37
NC_000005.8:g.176827166G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393565.6:c.399C>T MANE Select	ENSP00000377195.1:p.Leu133=
ENST00000292385.9:c.405C>T	ENSP00000292385.5:p.Leu135=
ENST00000309007.9:c.399C>T	ENSP00000308532.5:p.Leu133=
ENST00000393565.5:c.399C>T	ENSP00000377195.1:p.Leu133=
ENST00000471767.1:n.40C>T
ENST00000472831.5:n.617C>T
ENST00000477391.6:c.396C>T	ENSP00000422854.1:p.Leu132=
ENST00000506117.5:c.210C>T	ENSP00000425546.1:p.Leu70=
NM_004395.3:c.399C>T	NP_004386.2:p.Leu133=
NM_080881.2:c.405C>T	NP_543157.1:p.Leu135=
XM_005265827.2:c.399C>T	XP_005265884.1:p.Leu133=
XM_006714826.1:c.210C>T	XP_006714889.1:p.Leu70=
XM_011534446.1:c.405C>T	XP_011532748.1:p.Leu135=
XM_011534447.1:c.366C>T	XP_011532749.1:p.Leu122=
NM_001363541.1:c.399C>T	NP_001350470.1:p.Leu133=
NM_001364151.1:c.396C>T	NP_001351080.1:p.Leu132=
XM_006714826.2:c.210C>T	XP_006714889.1:p.Leu70=
XM_011534446.2:c.405C>T	XP_011532748.1:p.Leu135=
XM_011534447.2:c.366C>T	XP_011532749.1:p.Leu122=
XM_017009139.1:c.405C>T	XP_016864628.1:p.Leu135=
XM_017009140.1:c.405C>T	XP_016864629.1:p.Leu135=
NM_001363541.2:c.399C>T MANE Select	NP_001350470.2:p.Leu133=
NM_001364151.2:c.396C>T	NP_001351080.2:p.Leu132=
NM_001393630.1:c.405C>T	NP_001380559.1:p.Leu135=
NM_001393631.1:c.210C>T	NP_001380560.1:p.Leu70=
NM_004395.4:c.399C>T	NP_004386.3:p.Leu133=
NM_080881.3:c.405C>T	NP_543157.2:p.Leu135=