Canonical Allele Identifier: CA362868980

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627414-A-G
• MyVariant Identifiers: chr6:g.15627645A>G (hg19) ; chr6:g.15627414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627414A>G , CM000668.2:g.15627414A>G	GRCh38
NC_000006.11:g.15627645A>G , CM000668.1:g.15627645A>G	GRCh37
NC_000006.10:g.15735624A>G	NCBI36
NG_009309.1:g.40627T>C , LRG_588:g.40627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.284T>C MANE Select	ENSP00000341680.6:p.Val95Ala
ENST00000338950.9:c.284T>C	ENSP00000344718.5:p.Val95Ala
ENST00000344537.9:c.284T>C	ENSP00000341680.5:p.Val95Ala
ENST00000355917.7:c.233T>C	ENSP00000348183.4:p.Val78Ala
ENST00000506844.1:c.*282T>C	ENSP00000424202.1:n.*282T>C
ENST00000510395.5:c.*194T>C	ENSP00000424685.1:n.*194T>C
ENST00000511762.2:c.179T>C	ENSP00000427473.2:p.Val60Ala
ENST00000513680.5:c.*282T>C	ENSP00000424357.1:n.*282T>C
ENST00000515875.5:c.233T>C	ENSP00000425495.1:p.Val78Ala
ENST00000622898.4:c.179T>C	ENSP00000481997.1:p.Val60Ala
NM_001271667.1:c.41T>C	NP_001258596.1:p.Val14Ala
NM_001271668.1:c.233T>C	NP_001258597.1:p.Val78Ala
NM_001271669.1:c.179T>C	NP_001258598.1:p.Val60Ala
NM_032122.4:c.284T>C , LRG_588t1:c.284T>C	NP_115498.2:p.Val95Ala
NM_183040.2:c.284T>C , LRG_588t2:c.284T>C	NP_898861.1:p.Val95Ala
NR_036448.1:n.612T>C
XM_005249447.3:c.245T>C	XP_005249504.1:p.Val82Ala
XM_011514936.1:c.194T>C	XP_011513238.1:p.Val65Ala
XM_005249447.4:c.245T>C	XP_005249504.1:p.Val82Ala
XM_011514936.3:c.194T>C	XP_011513238.1:p.Val65Ala
NM_032122.5:c.284T>C MANE Select	NP_115498.2:p.Val95Ala
NR_036448.2:n.582T>C
NM_001271667.2:c.41T>C	NP_001258596.1:p.Val14Ala
NM_001271668.2:c.233T>C	NP_001258597.1:p.Val78Ala
NM_001271669.2:c.179T>C	NP_001258598.1:p.Val60Ala
NR_036448.3:n.582T>C