Canonical Allele Identifier: CA2582217767

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs2122345636
• gnomAD v3: 19-48024283-A-G
• gnomAD v4: 19-48024283-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024283A>G , CM000681.2:g.48024283A>G	GRCh38
NC_000019.9:g.48527540A>G , CM000681.1:g.48527540A>G	GRCh37
NC_000019.8:g.53219352A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339841.7:c.*8-669A>G MANE Select	ENSP00000340660.2:n.*8-669A>G
ENST00000339841.6:c.*8-669A>G	ENSP00000340660.2:n.*8-669A>G
ENST00000593413.1:c.239-648A>G	ENSP00000470551.1:n.239-648A>G
ENST00000593782.1:c.514-669A>G
ENST00000597519.5:c.*8-669A>G	ENSP00000471690.1:n.*8-669A>G
ENST00000619003.4:c.*13-669A>G	ENSP00000481506.1:n.*13-669A>G
NM_022142.4:c.*8-669A>G	NP_071425.3:n.*8-669A>G
XM_006723322.2:c.*8-669A>G	XP_006723385.1:n.*8-669A>G
XM_017027130.1:c.*8-669A>G	XP_016882619.1:n.*8-669A>G
NM_022142.5:c.*8-669A>G MANE Select	NP_071425.3:n.*8-669A>G