Canonical Allele Identifier: CA448827214

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627346-G-A
• MyVariant Identifiers: chr6:g.15627577G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627346G>A , CM000668.2:g.15627346G>A	GRCh38
NC_000006.11:g.15627577G>A , CM000668.1:g.15627577G>A	GRCh37
NC_000006.10:g.15735556G>A	NCBI36
NG_009309.1:g.40695C>T , LRG_588:g.40695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.352C>T MANE Select	ENSP00000341680.6:p.Leu118=
ENST00000338950.9:c.352C>T	ENSP00000344718.5:p.Leu118=
ENST00000344537.9:c.352C>T	ENSP00000341680.5:p.Leu118=
ENST00000355917.7:c.301C>T	ENSP00000348183.4:p.Leu101=
ENST00000506844.1:c.*350C>T	ENSP00000424202.1:n.*350C>T
ENST00000510395.5:c.*262C>T	ENSP00000424685.1:n.*262C>T
ENST00000511762.2:c.247C>T	ENSP00000427473.2:p.Leu83=
ENST00000513680.5:c.*350C>T	ENSP00000424357.1:n.*350C>T
ENST00000515875.5:c.301C>T	ENSP00000425495.1:p.Leu101=
ENST00000622898.4:c.247C>T	ENSP00000481997.1:p.Leu83=
NM_001271667.1:c.109C>T	NP_001258596.1:p.Leu37=
NM_001271668.1:c.301C>T	NP_001258597.1:p.Leu101=
NM_001271669.1:c.247C>T	NP_001258598.1:p.Leu83=
NM_032122.4:c.352C>T , LRG_588t1:c.352C>T	NP_115498.2:p.Leu118=
NM_183040.2:c.352C>T , LRG_588t2:c.352C>T	NP_898861.1:p.Leu118=
NR_036448.1:n.680C>T
XM_005249447.3:c.313C>T	XP_005249504.1:p.Leu105=
XM_011514936.1:c.262C>T	XP_011513238.1:p.Leu88=
XM_005249447.4:c.313C>T	XP_005249504.1:p.Leu105=
XM_011514936.3:c.262C>T	XP_011513238.1:p.Leu88=
NM_032122.5:c.352C>T MANE Select	NP_115498.2:p.Leu118=
NR_036448.2:n.650C>T
NM_001271667.2:c.109C>T	NP_001258596.1:p.Leu37=
NM_001271668.2:c.301C>T	NP_001258597.1:p.Leu101=
NM_001271669.2:c.247C>T	NP_001258598.1:p.Leu83=
NR_036448.3:n.650C>T