Canonical Allele Identifier: CA15422159

Gene: DTNBP1

Linked Data

• dbSNP Id: rs139759231
• gnomAD v2: 6-15572936-T-C
• gnomAD v3: 6-15572705-T-C
• gnomAD v4: 6-15572705-T-C
• MyVariant Identifiers: chr6:g.15572936T>C (hg19) ; chr6:g.15572705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15572705T>C , CM000668.2:g.15572705T>C	GRCh38
NC_000006.11:g.15572936T>C , CM000668.1:g.15572936T>C	GRCh37
NC_000006.10:g.15680915T>C	NCBI36
NG_009309.1:g.95336A>G , LRG_588:g.95336A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.511+20354A>G MANE Select	ENSP00000341680.6:n.511+20354A>G
ENST00000338950.9:c.511+20354A>G	ENSP00000344718.5:n.511+20354A>G
ENST00000344537.9:c.511+20354A>G	ENSP00000341680.5:n.511+20354A>G
ENST00000355917.7:c.460+20354A>G	ENSP00000348183.4:n.460+20354A>G
ENST00000462989.6:c.43+13014A>G	ENSP00000427239.1:n.43+13014A>G
ENST00000506844.1:c.*509+20354A>G	ENSP00000424202.1:n.*509+20354A>G
ENST00000510395.5:c.*421+20354A>G	ENSP00000424685.1:n.*421+20354A>G
ENST00000511762.2:c.406+20354A>G	ENSP00000427473.2:n.406+20354A>G
ENST00000513680.5:c.*509+20354A>G	ENSP00000424357.1:n.*509+20354A>G
ENST00000515875.5:c.460+20354A>G	ENSP00000425495.1:n.460+20354A>G
ENST00000622898.4:c.406+20354A>G	ENSP00000481997.1:n.406+20354A>G
NM_001271667.1:c.268+20354A>G	NP_001258596.1:n.268+20354A>G
NM_001271668.1:c.460+20354A>G	NP_001258597.1:n.460+20354A>G
NM_001271669.1:c.406+20354A>G	NP_001258598.1:n.406+20354A>G
NM_032122.4:c.511+20354A>G , LRG_588t1:c.511+20354A>G	NP_115498.2:n.511+20354A>G
NM_183040.2:c.511+20354A>G , LRG_588t2:c.511+20354A>G	NP_898861.1:n.511+20354A>G
NR_036448.1:n.839+20354A>G
XM_005249447.3:c.472+20354A>G	XP_005249504.1:n.472+20354A>G
XM_011514936.1:c.421+20354A>G	XP_011513238.1:n.421+20354A>G
XM_011514937.1:c.43+13014A>G	XP_011513239.1:n.43+13014A>G
XM_005249447.4:c.472+20354A>G	XP_005249504.1:n.472+20354A>G
XM_011514936.3:c.421+20354A>G	XP_011513238.1:n.421+20354A>G
XM_011514937.2:c.43+13014A>G	XP_011513239.1:n.43+13014A>G
NM_032122.5:c.511+20354A>G MANE Select	NP_115498.2:n.511+20354A>G
NR_036448.2:n.809+20354A>G
NM_001271667.2:c.268+20354A>G	NP_001258596.1:n.268+20354A>G
NM_001271668.2:c.460+20354A>G	NP_001258597.1:n.460+20354A>G
NM_001271669.2:c.406+20354A>G	NP_001258598.1:n.406+20354A>G
NR_036448.3:n.809+20354A>G