Canonical Allele Identifier: CA3644190
Gene: DTNBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415098
ClinVar RCV Id: RCV001920903
dbSNP Id: rs373060790
gnomAD v2: 6-15627703-C-T
gnomAD v3: 6-15627472-C-T
gnomAD v4: 6-15627472-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.15627472C>T , CM000668.2:g.15627472C>T GRCh38
NC_000006.11:g.15627703C>T , CM000668.1:g.15627703C>T GRCh37
NC_000006.10:g.15735682C>T NCBI36
NG_009309.1:g.40569G>A , LRG_588:g.40569G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344537.10:c.226G>A MANE Select ENSP00000341680.6:p.Val76Met
ENST00000338950.9:c.226G>A ENSP00000344718.5:p.Val76Met
ENST00000344537.9:c.226G>A ENSP00000341680.5:p.Val76Met
ENST00000355917.7:c.175G>A ENSP00000348183.4:p.Val59Met
ENST00000506844.1:c.*224G>A ENSP00000424202.1:n.*224G>A
ENST00000510395.5:c.*136G>A ENSP00000424685.1:n.*136G>A
ENST00000511762.2:c.121G>A ENSP00000427473.2:p.Val41Met
ENST00000513680.5:c.*224G>A ENSP00000424357.1:n.*224G>A
ENST00000515875.5:c.175G>A ENSP00000425495.1:p.Val59Met
ENST00000622898.4:c.121G>A ENSP00000481997.1:p.Val41Met
NM_001271667.1:c.-18G>A NP_001258596.1:n.-18G>A
NM_001271668.1:c.175G>A NP_001258597.1:p.Val59Met
NM_001271669.1:c.121G>A NP_001258598.1:p.Val41Met
NM_032122.4:c.226G>A , LRG_588t1:c.226G>A NP_115498.2:p.Val76Met
NM_183040.2:c.226G>A , LRG_588t2:c.226G>A NP_898861.1:p.Val76Met
NR_036448.1:n.554G>A
XM_005249447.3:c.187G>A XP_005249504.1:p.Val63Met
XM_011514936.1:c.136G>A XP_011513238.1:p.Val46Met
XM_005249447.4:c.187G>A XP_005249504.1:p.Val63Met
XM_011514936.3:c.136G>A XP_011513238.1:p.Val46Met
NM_032122.5:c.226G>A MANE Select NP_115498.2:p.Val76Met
NR_036448.2:n.524G>A
NM_001271667.2:c.-18G>A NP_001258596.1:n.-18G>A
NM_001271668.2:c.175G>A NP_001258597.1:p.Val59Met
NM_001271669.2:c.121G>A NP_001258598.1:p.Val41Met
NR_036448.3:n.524G>A