Canonical Allele Identifier: CA362869612

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15638021C>G (hg19) ; chr6:g.15637790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637790C>G , CM000668.2:g.15637790C>G	GRCh38
NC_000006.11:g.15638021C>G , CM000668.1:g.15638021C>G	GRCh37
NC_000006.10:g.15746000C>G	NCBI36
NG_009309.1:g.30251G>C , LRG_588:g.30251G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.176G>C MANE Select	ENSP00000341680.6:p.Trp59Ser
ENST00000338950.9:c.176G>C	ENSP00000344718.5:p.Trp59Ser
ENST00000344537.9:c.176G>C	ENSP00000341680.5:p.Trp59Ser
ENST00000355917.7:c.125G>C	ENSP00000348183.4:p.Trp42Ser
ENST00000506844.1:c.*174G>C	ENSP00000424202.1:n.*174G>C
ENST00000510395.5:c.*86G>C	ENSP00000424685.1:n.*86G>C
ENST00000511762.2:c.71G>C	ENSP00000427473.2:p.Trp24Ser
ENST00000513680.5:c.*174G>C	ENSP00000424357.1:n.*174G>C
ENST00000515875.5:c.125G>C	ENSP00000425495.1:p.Trp42Ser
ENST00000622898.4:c.71G>C	ENSP00000481997.1:p.Trp24Ser
NM_001271667.1:c.-68G>C	NP_001258596.1:n.-68G>C
NM_001271668.1:c.125G>C	NP_001258597.1:p.Trp42Ser
NM_001271669.1:c.71G>C	NP_001258598.1:p.Trp24Ser
NM_032122.4:c.176G>C , LRG_588t1:c.176G>C	NP_115498.2:p.Trp59Ser
NM_183040.2:c.176G>C , LRG_588t2:c.176G>C	NP_898861.1:p.Trp59Ser
NR_036448.1:n.504G>C
XM_005249447.3:c.137G>C	XP_005249504.1:p.Trp46Ser
XM_011514936.1:c.86G>C	XP_011513238.1:p.Trp29Ser
XM_005249447.4:c.137G>C	XP_005249504.1:p.Trp46Ser
XM_011514936.3:c.86G>C	XP_011513238.1:p.Trp29Ser
NM_032122.5:c.176G>C MANE Select	NP_115498.2:p.Trp59Ser
NR_036448.2:n.474G>C
NM_001271667.2:c.-68G>C	NP_001258596.1:n.-68G>C
NM_001271668.2:c.125G>C	NP_001258597.1:p.Trp42Ser
NM_001271669.2:c.71G>C	NP_001258598.1:p.Trp24Ser
NR_036448.3:n.474G>C