Canonical Allele Identifier: CA9541672

Gene: BICRA

Linked Data

• dbSNP Id: rs772343222
• ExAC: 19:48183588 C / G
• gnomAD v2: 19-48183588-C-G
• gnomAD v4: 19-47680331-C-G
• MyVariant Identifiers: chr19:g.48183588C>G (hg19) ; chr19:g.47680331C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680331C>G , CM000681.2:g.47680331C>G	GRCh38
NC_000019.9:g.48183588C>G , CM000681.1:g.48183588C>G	GRCh37
NC_000019.8:g.52875400C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1161C>G MANE Select	ENSP00000469738.2:p.Leu387=
ENST00000614245.2:c.435C>G	ENSP00000480219.2:p.Leu145=
ENST00000396720.7:c.1161C>G	ENSP00000379946.2:p.Leu387=
ENST00000614245.1:c.1005C>G	ENSP00000480219.1:p.Leu335=
NM_015711.3:c.1161C>G	NP_056526.3:p.Leu387=
XM_005258833.3:c.1161C>G	XP_005258890.1:p.Leu387=
XM_006723180.2:c.1161C>G	XP_006723243.1:p.Leu387=
XM_011526882.1:c.1023C>G	XP_011525184.1:p.Leu341=
XM_011526883.1:c.1161C>G	XP_011525185.1:p.Leu387=
XM_005258833.4:c.1161C>G	XP_005258890.1:p.Leu387=
XM_006723180.3:c.1161C>G	XP_006723243.1:p.Leu387=
XM_011526882.2:c.1023C>G	XP_011525184.1:p.Leu341=
XM_011526883.2:c.1161C>G	XP_011525185.1:p.Leu387=
NM_001394372.1:c.1161C>G MANE Select	NP_001381301.1:p.Leu387=