Canonical Allele Identifier: CA2339699222
Gene: ELSPBP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48024215C= , CM000681.2:g.48024215C= GRCh38
NC_000019.9:g.48527472C= , CM000681.1:g.48527472C= GRCh37
NC_000019.8:g.53219284C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339841.7:c.*8-737C= MANE Select ENSP00000340660.2:n.*8-737C=
ENST00000339841.6:c.*8-737C= ENSP00000340660.2:n.*8-737C=
ENST00000593413.1:c.239-716C= ENSP00000470551.1:n.239-716C=
ENST00000593782.1:c.514-737C=
ENST00000597519.5:c.*8-737C= ENSP00000471690.1:n.*8-737C=
ENST00000619003.4:c.*13-737C= ENSP00000481506.1:n.*13-737C=
NM_022142.4:c.*8-737C= NP_071425.3:n.*8-737C=
XM_006723322.2:c.*8-737C= XP_006723385.1:n.*8-737C=
XM_017027130.1:c.*8-737C= XP_016882619.1:n.*8-737C=
NM_022142.5:c.*8-737C= MANE Select NP_071425.3:n.*8-737C=
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