Canonical Allele Identifier: CA1086292624

Gene: DTNBP1

Linked Data

• dbSNP Id: rs1759397743
• gnomAD v3: 6-15627222-T-G
• gnomAD v4: 6-15627222-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627222T>G , CM000668.2:g.15627222T>G	GRCh38
NC_000006.11:g.15627453T>G , CM000668.1:g.15627453T>G	GRCh37
NC_000006.10:g.15735432T>G	NCBI36
NG_009309.1:g.40819A>C , LRG_588:g.40819A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.355+121A>C MANE Select	ENSP00000341680.6:n.355+121A>C
ENST00000338950.9:c.355+121A>C	ENSP00000344718.5:n.355+121A>C
ENST00000344537.9:c.355+121A>C	ENSP00000341680.5:n.355+121A>C
ENST00000355917.7:c.304+121A>C	ENSP00000348183.4:n.304+121A>C
ENST00000506844.1:c.*353+121A>C	ENSP00000424202.1:n.*353+121A>C
ENST00000510395.5:c.*265+121A>C	ENSP00000424685.1:n.*265+121A>C
ENST00000511762.2:c.250+121A>C	ENSP00000427473.2:n.250+121A>C
ENST00000513680.5:c.*353+121A>C	ENSP00000424357.1:n.*353+121A>C
ENST00000515875.5:c.304+121A>C	ENSP00000425495.1:n.304+121A>C
ENST00000622898.4:c.250+121A>C	ENSP00000481997.1:n.250+121A>C
NM_001271667.1:c.112+121A>C	NP_001258596.1:n.112+121A>C
NM_001271668.1:c.304+121A>C	NP_001258597.1:n.304+121A>C
NM_001271669.1:c.250+121A>C	NP_001258598.1:n.250+121A>C
NM_032122.4:c.355+121A>C , LRG_588t1:c.355+121A>C	NP_115498.2:n.355+121A>C
NM_183040.2:c.355+121A>C , LRG_588t2:c.355+121A>C	NP_898861.1:n.355+121A>C
NR_036448.1:n.683+121A>C
XM_005249447.3:c.316+121A>C	XP_005249504.1:n.316+121A>C
XM_011514936.1:c.265+121A>C	XP_011513238.1:n.265+121A>C
XM_005249447.4:c.316+121A>C	XP_005249504.1:n.316+121A>C
XM_011514936.3:c.265+121A>C	XP_011513238.1:n.265+121A>C
NM_032122.5:c.355+121A>C MANE Select	NP_115498.2:n.355+121A>C
NR_036448.2:n.653+121A>C
NM_001271667.2:c.112+121A>C	NP_001258596.1:n.112+121A>C
NM_001271668.2:c.304+121A>C	NP_001258597.1:n.304+121A>C
NM_001271669.2:c.250+121A>C	NP_001258598.1:n.250+121A>C
NR_036448.3:n.653+121A>C