Canonical Allele Identifier: CA996554118

Gene: ELSPBP1

Linked Data

• dbSNP Id: rs1279674214
• gnomAD v3: 19-48024264-G-T
• gnomAD v4: 19-48024264-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48024264G>T , CM000681.2:g.48024264G>T	GRCh38
NC_000019.9:g.48527521G>T , CM000681.1:g.48527521G>T	GRCh37
NC_000019.8:g.53219333G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339841.7:c.*8-688G>T MANE Select	ENSP00000340660.2:n.*8-688G>T
ENST00000339841.6:c.*8-688G>T	ENSP00000340660.2:n.*8-688G>T
ENST00000593413.1:c.239-667G>T	ENSP00000470551.1:n.239-667G>T
ENST00000593782.1:c.514-688G>T
ENST00000597519.5:c.*8-688G>T	ENSP00000471690.1:n.*8-688G>T
ENST00000619003.4:c.*13-688G>T	ENSP00000481506.1:n.*13-688G>T
NM_022142.4:c.*8-688G>T	NP_071425.3:n.*8-688G>T
XM_006723322.2:c.*8-688G>T	XP_006723385.1:n.*8-688G>T
XM_017027130.1:c.*8-688G>T	XP_016882619.1:n.*8-688G>T
NM_022142.5:c.*8-688G>T MANE Select	NP_071425.3:n.*8-688G>T