Canonical Allele Identifier: CA12315921

Gene: DTNBP1

Linked Data

• dbSNP Id: rs62397467
• gnomAD v2: 6-15572946-G-C
• gnomAD v3: 6-15572715-G-C
• gnomAD v4: 6-15572715-G-C
• MyVariant Identifiers: chr6:g.15572946G>C (hg19) ; chr6:g.15572715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15572715G>C , CM000668.2:g.15572715G>C	GRCh38
NC_000006.11:g.15572946G>C , CM000668.1:g.15572946G>C	GRCh37
NC_000006.10:g.15680925G>C	NCBI36
NG_009309.1:g.95326C>G , LRG_588:g.95326C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.511+20344C>G MANE Select	ENSP00000341680.6:n.511+20344C>G
ENST00000338950.9:c.511+20344C>G	ENSP00000344718.5:n.511+20344C>G
ENST00000344537.9:c.511+20344C>G	ENSP00000341680.5:n.511+20344C>G
ENST00000355917.7:c.460+20344C>G	ENSP00000348183.4:n.460+20344C>G
ENST00000462989.6:c.43+13004C>G	ENSP00000427239.1:n.43+13004C>G
ENST00000506844.1:c.*509+20344C>G	ENSP00000424202.1:n.*509+20344C>G
ENST00000510395.5:c.*421+20344C>G	ENSP00000424685.1:n.*421+20344C>G
ENST00000511762.2:c.406+20344C>G	ENSP00000427473.2:n.406+20344C>G
ENST00000513680.5:c.*509+20344C>G	ENSP00000424357.1:n.*509+20344C>G
ENST00000515875.5:c.460+20344C>G	ENSP00000425495.1:n.460+20344C>G
ENST00000622898.4:c.406+20344C>G	ENSP00000481997.1:n.406+20344C>G
NM_001271667.1:c.268+20344C>G	NP_001258596.1:n.268+20344C>G
NM_001271668.1:c.460+20344C>G	NP_001258597.1:n.460+20344C>G
NM_001271669.1:c.406+20344C>G	NP_001258598.1:n.406+20344C>G
NM_032122.4:c.511+20344C>G , LRG_588t1:c.511+20344C>G	NP_115498.2:n.511+20344C>G
NM_183040.2:c.511+20344C>G , LRG_588t2:c.511+20344C>G	NP_898861.1:n.511+20344C>G
NR_036448.1:n.839+20344C>G
XM_005249447.3:c.472+20344C>G	XP_005249504.1:n.472+20344C>G
XM_011514936.1:c.421+20344C>G	XP_011513238.1:n.421+20344C>G
XM_011514937.1:c.43+13004C>G	XP_011513239.1:n.43+13004C>G
XM_005249447.4:c.472+20344C>G	XP_005249504.1:n.472+20344C>G
XM_011514936.3:c.421+20344C>G	XP_011513238.1:n.421+20344C>G
XM_011514937.2:c.43+13004C>G	XP_011513239.1:n.43+13004C>G
NM_032122.5:c.511+20344C>G MANE Select	NP_115498.2:n.511+20344C>G
NR_036448.2:n.809+20344C>G
NM_001271667.2:c.268+20344C>G	NP_001258596.1:n.268+20344C>G
NM_001271668.2:c.460+20344C>G	NP_001258597.1:n.460+20344C>G
NM_001271669.2:c.406+20344C>G	NP_001258598.1:n.406+20344C>G
NR_036448.3:n.809+20344C>G