Canonical Allele Identifier: CA3296571

Gene: BDP1

Linked Data

• ClinVar Variation Id: 508088
• ClinVar RCV Id: RCV000614486 ; RCV001554059
• dbSNP Id: rs6886336
• ExAC: 5:70806958 G / A
• gnomAD v2: 5-70806958-G-A
• gnomAD v3: 5-71511131-G-A
• gnomAD v4: 5-71511131-G-A
• MyVariant Identifiers: chr5:g.70806958G>A (hg19) ; chr5:g.71511131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71511131G>A , CM000667.2:g.71511131G>A	GRCh38
NC_000005.9:g.70806958G>A , CM000667.1:g.70806958G>A	GRCh37
NC_000005.8:g.70842714G>A	NCBI36
NG_047017.1:g.60749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358731.9:c.4039G>A MANE Select	ENSP00000351575.4:p.Val1347Met
ENST00000358731.8:c.4039G>A	ENSP00000351575.4:p.Val1347Met
ENST00000508157.3:n.3184G>A
ENST00000508917.6:n.4231G>A
NM_018429.2:c.4039G>A	NP_060899.2:p.Val1347Met
XM_006714658.2:c.4039G>A	XP_006714721.1:p.Val1347Met
XM_006714659.2:c.4039G>A	XP_006714722.1:p.Val1347Met
XM_011543511.1:c.4039G>A	XP_011541813.1:p.Val1347Met
XM_011543512.1:c.4039G>A	XP_011541814.1:p.Val1347Met
XM_011543513.1:c.4039G>A	XP_011541815.1:p.Val1347Met
XR_241785.3:n.4533G>A
XR_948275.1:n.4534G>A
XR_948276.1:n.4534G>A
XR_948277.1:n.4534G>A
XR_948278.1:n.4534G>A
XR_948279.1:n.4534G>A
XR_948280.1:n.4534G>A
XM_011543511.3:c.4039G>A	XP_011541813.1:p.Val1347Met
XM_011543512.2:c.4039G>A	XP_011541814.1:p.Val1347Met
XM_017009630.1:c.4039G>A	XP_016865119.1:p.Val1347Met
XM_017009631.1:c.4039G>A	XP_016865120.1:p.Val1347Met
XM_017009632.1:c.4039G>A	XP_016865121.1:p.Val1347Met
XM_017009633.1:c.4039G>A	XP_016865122.1:p.Val1347Met
XM_017009634.1:c.4039G>A	XP_016865123.1:p.Val1347Met
NM_018429.3:c.4039G>A MANE Select	NP_060899.2:p.Val1347Met