Canonical Allele Identifier: CA362869114

Gene: DTNBP1

Linked Data

• MyVariant Identifiers: chr6:g.15627703C>G (hg19) ; chr6:g.15627472C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.226G>C MANE Select	ENSP00000341680.6:p.Val76Leu
ENST00000338950.9:c.226G>C	ENSP00000344718.5:p.Val76Leu
ENST00000344537.9:c.226G>C	ENSP00000341680.5:p.Val76Leu
ENST00000355917.7:c.175G>C	ENSP00000348183.4:p.Val59Leu
ENST00000506844.1:c.*224G>C	ENSP00000424202.1:n.*224G>C
ENST00000510395.5:c.*136G>C	ENSP00000424685.1:n.*136G>C
ENST00000511762.2:c.121G>C	ENSP00000427473.2:p.Val41Leu
ENST00000513680.5:c.*224G>C	ENSP00000424357.1:n.*224G>C
ENST00000515875.5:c.175G>C	ENSP00000425495.1:p.Val59Leu
ENST00000622898.4:c.121G>C	ENSP00000481997.1:p.Val41Leu
NM_001271667.1:c.-18G>C	NP_001258596.1:n.-18G>C
NM_001271668.1:c.175G>C	NP_001258597.1:p.Val59Leu
NM_001271669.1:c.121G>C	NP_001258598.1:p.Val41Leu
NM_032122.4:c.226G>C , LRG_588t1:c.226G>C	NP_115498.2:p.Val76Leu
NM_183040.2:c.226G>C , LRG_588t2:c.226G>C	NP_898861.1:p.Val76Leu
NR_036448.1:n.554G>C
XM_005249447.3:c.187G>C	XP_005249504.1:p.Val63Leu
XM_011514936.1:c.136G>C	XP_011513238.1:p.Val46Leu
XM_005249447.4:c.187G>C	XP_005249504.1:p.Val63Leu
XM_011514936.3:c.136G>C	XP_011513238.1:p.Val46Leu
NM_032122.5:c.226G>C MANE Select	NP_115498.2:p.Val76Leu
NR_036448.2:n.524G>C
NM_001271667.2:c.-18G>C	NP_001258596.1:n.-18G>C
NM_001271668.2:c.175G>C	NP_001258597.1:p.Val59Leu
NM_001271669.2:c.121G>C	NP_001258598.1:p.Val41Leu
NR_036448.3:n.524G>C