Canonical Allele Identifier: CA448827264

Gene: DTNBP1

Linked Data

• gnomAD v4: 6-15627419-G-A
• MyVariant Identifiers: chr6:g.15627650G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15627419G>A , CM000668.2:g.15627419G>A	GRCh38
NC_000006.11:g.15627650G>A , CM000668.1:g.15627650G>A	GRCh37
NC_000006.10:g.15735629G>A	NCBI36
NG_009309.1:g.40622C>T , LRG_588:g.40622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.279C>T MANE Select	ENSP00000341680.6:p.Ser93=
ENST00000338950.9:c.279C>T	ENSP00000344718.5:p.Ser93=
ENST00000344537.9:c.279C>T	ENSP00000341680.5:p.Ser93=
ENST00000355917.7:c.228C>T	ENSP00000348183.4:p.Ser76=
ENST00000506844.1:c.*277C>T	ENSP00000424202.1:n.*277C>T
ENST00000510395.5:c.*189C>T	ENSP00000424685.1:n.*189C>T
ENST00000511762.2:c.174C>T	ENSP00000427473.2:p.Ser58=
ENST00000513680.5:c.*277C>T	ENSP00000424357.1:n.*277C>T
ENST00000515875.5:c.228C>T	ENSP00000425495.1:p.Ser76=
ENST00000622898.4:c.174C>T	ENSP00000481997.1:p.Ser58=
NM_001271667.1:c.36C>T	NP_001258596.1:p.Ser12=
NM_001271668.1:c.228C>T	NP_001258597.1:p.Ser76=
NM_001271669.1:c.174C>T	NP_001258598.1:p.Ser58=
NM_032122.4:c.279C>T , LRG_588t1:c.279C>T	NP_115498.2:p.Ser93=
NM_183040.2:c.279C>T , LRG_588t2:c.279C>T	NP_898861.1:p.Ser93=
NR_036448.1:n.607C>T
XM_005249447.3:c.240C>T	XP_005249504.1:p.Ser80=
XM_011514936.1:c.189C>T	XP_011513238.1:p.Ser63=
XM_005249447.4:c.240C>T	XP_005249504.1:p.Ser80=
XM_011514936.3:c.189C>T	XP_011513238.1:p.Ser63=
NM_032122.5:c.279C>T MANE Select	NP_115498.2:p.Ser93=
NR_036448.2:n.577C>T
NM_001271667.2:c.36C>T	NP_001258596.1:p.Ser12=
NM_001271668.2:c.228C>T	NP_001258597.1:p.Ser76=
NM_001271669.2:c.174C>T	NP_001258598.1:p.Ser58=
NR_036448.3:n.577C>T