Canonical Allele Identifier: CA362869098

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627465-C-T
• MyVariant Identifiers: chr6:g.15627696C>T (hg19) ; chr6:g.15627465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627465C>T , CM000668.2:g.15627465C>T	GRCh38
NC_000006.11:g.15627696C>T , CM000668.1:g.15627696C>T	GRCh37
NC_000006.10:g.15735675C>T	NCBI36
NG_009309.1:g.40576G>A , LRG_588:g.40576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.233G>A MANE Select	ENSP00000341680.6:p.Ser78Asn
ENST00000338950.9:c.233G>A	ENSP00000344718.5:p.Ser78Asn
ENST00000344537.9:c.233G>A	ENSP00000341680.5:p.Ser78Asn
ENST00000355917.7:c.182G>A	ENSP00000348183.4:p.Ser61Asn
ENST00000506844.1:c.*231G>A	ENSP00000424202.1:n.*231G>A
ENST00000510395.5:c.*143G>A	ENSP00000424685.1:n.*143G>A
ENST00000511762.2:c.128G>A	ENSP00000427473.2:p.Ser43Asn
ENST00000513680.5:c.*231G>A	ENSP00000424357.1:n.*231G>A
ENST00000515875.5:c.182G>A	ENSP00000425495.1:p.Ser61Asn
ENST00000622898.4:c.128G>A	ENSP00000481997.1:p.Ser43Asn
NM_001271667.1:c.-11G>A	NP_001258596.1:n.-11G>A
NM_001271668.1:c.182G>A	NP_001258597.1:p.Ser61Asn
NM_001271669.1:c.128G>A	NP_001258598.1:p.Ser43Asn
NM_032122.4:c.233G>A , LRG_588t1:c.233G>A	NP_115498.2:p.Ser78Asn
NM_183040.2:c.233G>A , LRG_588t2:c.233G>A	NP_898861.1:p.Ser78Asn
NR_036448.1:n.561G>A
XM_005249447.3:c.194G>A	XP_005249504.1:p.Ser65Asn
XM_011514936.1:c.143G>A	XP_011513238.1:p.Ser48Asn
XM_005249447.4:c.194G>A	XP_005249504.1:p.Ser65Asn
XM_011514936.3:c.143G>A	XP_011513238.1:p.Ser48Asn
NM_032122.5:c.233G>A MANE Select	NP_115498.2:p.Ser78Asn
NR_036448.2:n.531G>A
NM_001271667.2:c.-11G>A	NP_001258596.1:n.-11G>A
NM_001271668.2:c.182G>A	NP_001258597.1:p.Ser61Asn
NM_001271669.2:c.128G>A	NP_001258598.1:p.Ser43Asn
NR_036448.3:n.531G>A