Canonical Allele Identifier: CA362869099

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627466-T-C
• MyVariant Identifiers: chr6:g.15627697T>C (hg19) ; chr6:g.15627466T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627466T>C , CM000668.2:g.15627466T>C	GRCh38
NC_000006.11:g.15627697T>C , CM000668.1:g.15627697T>C	GRCh37
NC_000006.10:g.15735676T>C	NCBI36
NG_009309.1:g.40575A>G , LRG_588:g.40575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.232A>G MANE Select	ENSP00000341680.6:p.Ser78Gly
ENST00000338950.9:c.232A>G	ENSP00000344718.5:p.Ser78Gly
ENST00000344537.9:c.232A>G	ENSP00000341680.5:p.Ser78Gly
ENST00000355917.7:c.181A>G	ENSP00000348183.4:p.Ser61Gly
ENST00000506844.1:c.*230A>G	ENSP00000424202.1:n.*230A>G
ENST00000510395.5:c.*142A>G	ENSP00000424685.1:n.*142A>G
ENST00000511762.2:c.127A>G	ENSP00000427473.2:p.Ser43Gly
ENST00000513680.5:c.*230A>G	ENSP00000424357.1:n.*230A>G
ENST00000515875.5:c.181A>G	ENSP00000425495.1:p.Ser61Gly
ENST00000622898.4:c.127A>G	ENSP00000481997.1:p.Ser43Gly
NM_001271667.1:c.-12A>G	NP_001258596.1:n.-12A>G
NM_001271668.1:c.181A>G	NP_001258597.1:p.Ser61Gly
NM_001271669.1:c.127A>G	NP_001258598.1:p.Ser43Gly
NM_032122.4:c.232A>G , LRG_588t1:c.232A>G	NP_115498.2:p.Ser78Gly
NM_183040.2:c.232A>G , LRG_588t2:c.232A>G	NP_898861.1:p.Ser78Gly
NR_036448.1:n.560A>G
XM_005249447.3:c.193A>G	XP_005249504.1:p.Ser65Gly
XM_011514936.1:c.142A>G	XP_011513238.1:p.Ser48Gly
XM_005249447.4:c.193A>G	XP_005249504.1:p.Ser65Gly
XM_011514936.3:c.142A>G	XP_011513238.1:p.Ser48Gly
NM_032122.5:c.232A>G MANE Select	NP_115498.2:p.Ser78Gly
NR_036448.2:n.530A>G
NM_001271667.2:c.-12A>G	NP_001258596.1:n.-12A>G
NM_001271668.2:c.181A>G	NP_001258597.1:p.Ser61Gly
NM_001271669.2:c.127A>G	NP_001258598.1:p.Ser43Gly
NR_036448.3:n.530A>G