Canonical Allele Identifier: CA3296288

Gene: BDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71509450C>T , CM000667.2:g.71509450C>T	GRCh38
NC_000005.9:g.70805277C>T , CM000667.1:g.70805277C>T	GRCh37
NC_000005.8:g.70841033C>T	NCBI36
NG_047017.1:g.59068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358731.9:c.2373-15C>T MANE Select	ENSP00000351575.4:n.2373-15C>T
ENST00000358731.8:c.2373-15C>T	ENSP00000351575.4:n.2373-15C>T
ENST00000380675.3:c.2373-15C>T	ENSP00000370050.3:n.2373-15C>T
ENST00000508157.3:n.1518-15C>T
ENST00000508917.6:n.2565-15C>T
NM_018429.2:c.2373-15C>T	NP_060899.2:n.2373-15C>T
XM_006714658.2:c.2373-15C>T	XP_006714721.1:n.2373-15C>T
XM_006714659.2:c.2373-15C>T	XP_006714722.1:n.2373-15C>T
XM_011543511.1:c.2373-15C>T	XP_011541813.1:n.2373-15C>T
XM_011543512.1:c.2373-15C>T	XP_011541814.1:n.2373-15C>T
XM_011543513.1:c.2373-15C>T	XP_011541815.1:n.2373-15C>T
XR_241785.3:n.2867-15C>T
XR_948275.1:n.2868-15C>T
XR_948276.1:n.2868-15C>T
XR_948277.1:n.2868-15C>T
XR_948278.1:n.2868-15C>T
XR_948279.1:n.2868-15C>T
XR_948280.1:n.2868-15C>T
XM_011543511.3:c.2373-15C>T	XP_011541813.1:n.2373-15C>T
XM_011543512.2:c.2373-15C>T	XP_011541814.1:n.2373-15C>T
XM_017009630.1:c.2373-15C>T	XP_016865119.1:n.2373-15C>T
XM_017009631.1:c.2373-15C>T	XP_016865120.1:n.2373-15C>T
XM_017009632.1:c.2373-15C>T	XP_016865121.1:n.2373-15C>T
XM_017009633.1:c.2373-15C>T	XP_016865122.1:n.2373-15C>T
XM_017009634.1:c.2373-15C>T	XP_016865123.1:n.2373-15C>T
NM_018429.3:c.2373-15C>T MANE Select	NP_060899.2:n.2373-15C>T