Canonical Allele Identifier: CA362868947

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627630T>A (hg19) ; chr6:g.15627399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627399T>A , CM000668.2:g.15627399T>A	GRCh38
NC_000006.11:g.15627630T>A , CM000668.1:g.15627630T>A	GRCh37
NC_000006.10:g.15735609T>A	NCBI36
NG_009309.1:g.40642A>T , LRG_588:g.40642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.299A>T MANE Select	ENSP00000341680.6:p.Gln100Leu
ENST00000338950.9:c.299A>T	ENSP00000344718.5:p.Gln100Leu
ENST00000344537.9:c.299A>T	ENSP00000341680.5:p.Gln100Leu
ENST00000355917.7:c.248A>T	ENSP00000348183.4:p.Gln83Leu
ENST00000506844.1:c.*297A>T	ENSP00000424202.1:n.*297A>T
ENST00000510395.5:c.*209A>T	ENSP00000424685.1:n.*209A>T
ENST00000511762.2:c.194A>T	ENSP00000427473.2:p.Gln65Leu
ENST00000513680.5:c.*297A>T	ENSP00000424357.1:n.*297A>T
ENST00000515875.5:c.248A>T	ENSP00000425495.1:p.Gln83Leu
ENST00000622898.4:c.194A>T	ENSP00000481997.1:p.Gln65Leu
NM_001271667.1:c.56A>T	NP_001258596.1:p.Gln19Leu
NM_001271668.1:c.248A>T	NP_001258597.1:p.Gln83Leu
NM_001271669.1:c.194A>T	NP_001258598.1:p.Gln65Leu
NM_032122.4:c.299A>T , LRG_588t1:c.299A>T	NP_115498.2:p.Gln100Leu
NM_183040.2:c.299A>T , LRG_588t2:c.299A>T	NP_898861.1:p.Gln100Leu
NR_036448.1:n.627A>T
XM_005249447.3:c.260A>T	XP_005249504.1:p.Gln87Leu
XM_011514936.1:c.209A>T	XP_011513238.1:p.Gln70Leu
XM_005249447.4:c.260A>T	XP_005249504.1:p.Gln87Leu
XM_011514936.3:c.209A>T	XP_011513238.1:p.Gln70Leu
NM_032122.5:c.299A>T MANE Select	NP_115498.2:p.Gln100Leu
NR_036448.2:n.597A>T
NM_001271667.2:c.56A>T	NP_001258596.1:p.Gln19Leu
NM_001271668.2:c.248A>T	NP_001258597.1:p.Gln83Leu
NM_001271669.2:c.194A>T	NP_001258598.1:p.Gln65Leu
NR_036448.3:n.597A>T