Canonical Allele Identifier: CA308624764

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs758408151
• gnomAD v2: 19-48527472-C-A
• gnomAD v3: 19-48024215-C-A
• gnomAD v4: 19-48024215-C-A
• MyVariant Identifiers: chr19:g.48527472C>A (hg19) ; chr19:g.48024215C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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