Canonical Allele Identifier: CA406612143

Gene: BICRA

Linked Data

• gnomAD v4: 19-47680329-C-A
• MyVariant Identifiers: chr19:g.48183586C>A (hg19) ; chr19:g.47680329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680329C>A , CM000681.2:g.47680329C>A	GRCh38
NC_000019.9:g.48183586C>A , CM000681.1:g.48183586C>A	GRCh37
NC_000019.8:g.52875398C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1159C>A MANE Select	ENSP00000469738.2:p.Leu387Ile
ENST00000614245.2:c.433C>A	ENSP00000480219.2:p.Leu145Ile
ENST00000396720.7:c.1159C>A	ENSP00000379946.2:p.Leu387Ile
ENST00000614245.1:c.1003C>A	ENSP00000480219.1:p.Leu335Ile
NM_015711.3:c.1159C>A	NP_056526.3:p.Leu387Ile
XM_005258833.3:c.1159C>A	XP_005258890.1:p.Leu387Ile
XM_006723180.2:c.1159C>A	XP_006723243.1:p.Leu387Ile
XM_011526882.1:c.1021C>A	XP_011525184.1:p.Leu341Ile
XM_011526883.1:c.1159C>A	XP_011525185.1:p.Leu387Ile
XM_005258833.4:c.1159C>A	XP_005258890.1:p.Leu387Ile
XM_006723180.3:c.1159C>A	XP_006723243.1:p.Leu387Ile
XM_011526882.2:c.1021C>A	XP_011525184.1:p.Leu341Ile
XM_011526883.2:c.1159C>A	XP_011525185.1:p.Leu387Ile
NM_001394372.1:c.1159C>A MANE Select	NP_001381301.1:p.Leu387Ile