Canonical Allele Identifier: CA2838537205

Gene: ITGBL1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101579496T>C , CM000675.2:g.101579496T>C	GRCh38
NC_000013.10:g.102231847T>C , CM000675.1:g.102231847T>C	GRCh37
NC_000013.9:g.101029848T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376180.8:c.727+69T>C MANE Select	ENSP00000365351.3:n.727+69T>C
ENST00000376162.7:c.448+69T>C	ENSP00000365332.3:n.448+69T>C
ENST00000376180.7:c.727+69T>C	ENSP00000365351.3:n.727+69T>C
ENST00000545560.6:c.304+69T>C	ENSP00000439903.1:n.304+69T>C
ENST00000618057.4:c.580+69T>C	ENSP00000481484.1:n.580+69T>C
ENST00000622834.4:c.448+69T>C	ENSP00000481065.1:n.448+69T>C
NM_001271754.1:c.304+69T>C	NP_001258683.1:n.304+69T>C
NM_001271755.1:c.580+69T>C	NP_001258684.1:n.580+69T>C
NM_001271756.1:c.448+69T>C	NP_001258685.1:n.448+69T>C
NM_004791.2:c.727+69T>C	NP_004782.1:n.727+69T>C
XM_005254100.3:c.727+69T>C	XP_005254157.1:n.727+69T>C
XR_931619.1:n.926+69T>C
XM_005254100.5:c.727+69T>C	XP_005254157.1:n.727+69T>C
NM_004791.3:c.727+69T>C MANE Select	NP_004782.1:n.727+69T>C
NM_001271754.2:c.304+69T>C	NP_001258683.1:n.304+69T>C
NM_001271755.2:c.580+69T>C	NP_001258684.1:n.580+69T>C
NM_001271756.2:c.448+69T>C	NP_001258685.1:n.448+69T>C