Canonical Allele Identifier: CA1554346471
Community Standard Title: NM_018429.3(BDP1):c.5916C= (p.Ile1972=)
Gene: BDP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71539065C= , CM000667.2:g.71539065C= GRCh38
NC_000005.9:g.70834892C= , CM000667.1:g.70834892C= GRCh37
NC_000005.8:g.70870648C= NCBI36
NG_047017.1:g.88683C=

Transcript Alleles

HGVS Amino-acid Change
NM_018429.3:c.5916C= MANE Select NP_060899.2:p.Ile1972=
ENST00000358731.9:c.5916C= MANE Select ENSP00000351575.4:p.Ile1972=
NM_018429.2:c.5916C= NP_060899.2:p.Ile1972=
ENST00000358731.8:c.5916C= ENSP00000351575.4:p.Ile1972=
ENST00000508917.6:n.6108C=
ENST00000514903.7:c.686C=
ENST00000525844.1:c.78C= ENSP00000432404.1:p.Ile26=
XM_006714658.2:c.5916C= XP_006714721.1:p.Ile1972=
XM_006714659.2:c.5916C= XP_006714722.1:p.Ile1972=
XM_011543511.1:c.5916C= XP_011541813.1:p.Ile1972=
XM_011543511.3:c.5916C= XP_011541813.1:p.Ile1972=
XM_011543512.1:c.5916C= XP_011541814.1:p.Ile1972=
XM_011543512.2:c.5916C= XP_011541814.1:p.Ile1972=
XM_011543513.1:c.5916C= XP_011541815.1:p.Ile1972=
XM_017009630.1:c.5916C= XP_016865119.1:p.Ile1972=
XM_017009631.1:c.5916C= XP_016865120.1:p.Ile1972=
XM_017009632.1:c.5916C= XP_016865121.1:p.Ile1972=
XM_017009633.1:c.5916C= XP_016865122.1:p.Ile1972=
XM_017009634.1:c.5916C= XP_016865123.1:p.Ile1972=
XR_241785.3:n.6410C=
XR_948275.1:n.6411C=
XR_948276.1:n.6411C=
XR_948277.1:n.6411C=
XR_948278.1:n.6411C=
XR_948279.1:n.6411C=
XR_948280.1:n.6411C=