Canonical Allele Identifier: CA448828058

Gene: DTNBP1

Linked Data

• ClinVar Variation Id: 2019703
• ClinVar RCV Id: RCV002852015
• dbSNP Id: rs1290958259
• gnomAD v2: 6-15638026-A-G
• gnomAD v4: 6-15637795-A-G
• MyVariant Identifiers: chr6:g.15638026A>G (hg19) ; chr6:g.15637795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15637795A>G , CM000668.2:g.15637795A>G	GRCh38
NC_000006.11:g.15638026A>G , CM000668.1:g.15638026A>G	GRCh37
NC_000006.10:g.15746005A>G	NCBI36
NG_009309.1:g.30246T>C , LRG_588:g.30246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.171T>C MANE Select	ENSP00000341680.6:p.Asp57=
ENST00000338950.9:c.171T>C	ENSP00000344718.5:p.Asp57=
ENST00000344537.9:c.171T>C	ENSP00000341680.5:p.Asp57=
ENST00000355917.7:c.120T>C	ENSP00000348183.4:p.Asp40=
ENST00000506844.1:c.*169T>C	ENSP00000424202.1:n.*169T>C
ENST00000510395.5:c.*81T>C	ENSP00000424685.1:n.*81T>C
ENST00000511762.2:c.66T>C	ENSP00000427473.2:p.Asp22=
ENST00000513680.5:c.*169T>C	ENSP00000424357.1:n.*169T>C
ENST00000515875.5:c.120T>C	ENSP00000425495.1:p.Asp40=
ENST00000622898.4:c.66T>C	ENSP00000481997.1:p.Asp22=
NM_001271667.1:c.-73T>C	NP_001258596.1:n.-73T>C
NM_001271668.1:c.120T>C	NP_001258597.1:p.Asp40=
NM_001271669.1:c.66T>C	NP_001258598.1:p.Asp22=
NM_032122.4:c.171T>C , LRG_588t1:c.171T>C	NP_115498.2:p.Asp57=
NM_183040.2:c.171T>C , LRG_588t2:c.171T>C	NP_898861.1:p.Asp57=
NR_036448.1:n.499T>C
XM_005249447.3:c.132T>C	XP_005249504.1:p.Asp44=
XM_011514936.1:c.81T>C	XP_011513238.1:p.Asp27=
XM_005249447.4:c.132T>C	XP_005249504.1:p.Asp44=
XM_011514936.3:c.81T>C	XP_011513238.1:p.Asp27=
NM_032122.5:c.171T>C MANE Select	NP_115498.2:p.Asp57=
NR_036448.2:n.469T>C
NM_001271667.2:c.-73T>C	NP_001258596.1:n.-73T>C
NM_001271668.2:c.120T>C	NP_001258597.1:p.Asp40=
NM_001271669.2:c.66T>C	NP_001258598.1:p.Asp22=
NR_036448.3:n.469T>C