Canonical Allele Identifier: CA362868934

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627624T>A (hg19) ; chr6:g.15627393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627393T>A , CM000668.2:g.15627393T>A	GRCh38
NC_000006.11:g.15627624T>A , CM000668.1:g.15627624T>A	GRCh37
NC_000006.10:g.15735603T>A	NCBI36
NG_009309.1:g.40648A>T , LRG_588:g.40648A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.305A>T MANE Select	ENSP00000341680.6:p.Gln102Leu
ENST00000338950.9:c.305A>T	ENSP00000344718.5:p.Gln102Leu
ENST00000344537.9:c.305A>T	ENSP00000341680.5:p.Gln102Leu
ENST00000355917.7:c.254A>T	ENSP00000348183.4:p.Gln85Leu
ENST00000506844.1:c.*303A>T	ENSP00000424202.1:n.*303A>T
ENST00000510395.5:c.*215A>T	ENSP00000424685.1:n.*215A>T
ENST00000511762.2:c.200A>T	ENSP00000427473.2:p.Gln67Leu
ENST00000513680.5:c.*303A>T	ENSP00000424357.1:n.*303A>T
ENST00000515875.5:c.254A>T	ENSP00000425495.1:p.Gln85Leu
ENST00000622898.4:c.200A>T	ENSP00000481997.1:p.Gln67Leu
NM_001271667.1:c.62A>T	NP_001258596.1:p.Gln21Leu
NM_001271668.1:c.254A>T	NP_001258597.1:p.Gln85Leu
NM_001271669.1:c.200A>T	NP_001258598.1:p.Gln67Leu
NM_032122.4:c.305A>T , LRG_588t1:c.305A>T	NP_115498.2:p.Gln102Leu
NM_183040.2:c.305A>T , LRG_588t2:c.305A>T	NP_898861.1:p.Gln102Leu
NR_036448.1:n.633A>T
XM_005249447.3:c.266A>T	XP_005249504.1:p.Gln89Leu
XM_011514936.1:c.215A>T	XP_011513238.1:p.Gln72Leu
XM_005249447.4:c.266A>T	XP_005249504.1:p.Gln89Leu
XM_011514936.3:c.215A>T	XP_011513238.1:p.Gln72Leu
NM_032122.5:c.305A>T MANE Select	NP_115498.2:p.Gln102Leu
NR_036448.2:n.603A>T
NM_001271667.2:c.62A>T	NP_001258596.1:p.Gln21Leu
NM_001271668.2:c.254A>T	NP_001258597.1:p.Gln85Leu
NM_001271669.2:c.200A>T	NP_001258598.1:p.Gln67Leu
NR_036448.3:n.603A>T