Canonical Allele Identifier: CA175975

Gene: DTNBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15523217G>A , CM000668.2:g.15523217G>A	GRCh38
NC_000006.11:g.15523448G>A , CM000668.1:g.15523448G>A	GRCh37
NC_000006.10:g.15631427G>A	NCBI36
NG_009309.1:g.144824C>T , LRG_588:g.144824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.814C>T MANE Select	ENSP00000341680.6:p.Pro272Ser
ENST00000344537.9:c.814C>T	ENSP00000341680.5:p.Pro272Ser
ENST00000355917.7:c.763C>T	ENSP00000348183.4:p.Pro255Ser
ENST00000462989.6:c.346C>T	ENSP00000427239.1:p.Pro116Ser
ENST00000509674.1:c.265C>T	ENSP00000421797.1:p.Pro89Ser
ENST00000510395.5:c.*724C>T	ENSP00000424685.1:n.*724C>T
ENST00000513680.5:c.*814C>T	ENSP00000424357.1:n.*814C>T
ENST00000515875.5:c.*138C>T	ENSP00000425495.1:n.*138C>T
ENST00000622898.4:c.709C>T	ENSP00000481997.1:p.Pro237Ser
NM_001271667.1:c.571C>T	NP_001258596.1:p.Pro191Ser
NM_001271668.1:c.763C>T	NP_001258597.1:p.Pro255Ser
NM_001271669.1:c.709C>T	NP_001258598.1:p.Pro237Ser
NM_032122.4:c.814C>T , LRG_588t1:c.814C>T	NP_115498.2:p.Pro272Ser
XM_005249447.3:c.775C>T	XP_005249504.1:p.Pro259Ser
XM_011514936.1:c.724C>T	XP_011513238.1:p.Pro242Ser
XM_011514937.1:c.346C>T	XP_011513239.1:p.Pro116Ser
XM_005249447.4:c.775C>T	XP_005249504.1:p.Pro259Ser
XM_011514936.3:c.724C>T	XP_011513238.1:p.Pro242Ser
XM_011514937.2:c.346C>T	XP_011513239.1:p.Pro116Ser
XM_017011348.1:c.364C>T	XP_016866837.1:p.Pro122Ser
XM_017011349.1:c.361C>T	XP_016866838.1:p.Pro121Ser
XM_024446567.1:c.415C>T	XP_024302335.1:p.Pro139Ser
NM_032122.5:c.814C>T MANE Select	NP_115498.2:p.Pro272Ser
NM_001271667.2:c.571C>T	NP_001258596.1:p.Pro191Ser
NM_001271668.2:c.763C>T	NP_001258597.1:p.Pro255Ser
NM_001271669.2:c.709C>T	NP_001258598.1:p.Pro237Ser