Canonical Allele Identifier: CA309233434

Gene: BICRA

Linked Data

• dbSNP Id: rs956719902
• gnomAD v2: 19-48183590-C-T
• gnomAD v4: 19-47680333-C-T
• MyVariant Identifiers: chr19:g.48183590C>T (hg19) ; chr19:g.47680333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680333C>T , CM000681.2:g.47680333C>T	GRCh38
NC_000019.9:g.48183590C>T , CM000681.1:g.48183590C>T	GRCh37
NC_000019.8:g.52875402C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594866.3:c.1163C>T MANE Select	ENSP00000469738.2:p.Pro388Leu
ENST00000614245.2:c.437C>T	ENSP00000480219.2:p.Pro146Leu
ENST00000396720.7:c.1163C>T	ENSP00000379946.2:p.Pro388Leu
ENST00000614245.1:c.1007C>T	ENSP00000480219.1:p.Pro336Leu
NM_015711.3:c.1163C>T	NP_056526.3:p.Pro388Leu
XM_005258833.3:c.1163C>T	XP_005258890.1:p.Pro388Leu
XM_006723180.2:c.1163C>T	XP_006723243.1:p.Pro388Leu
XM_011526882.1:c.1025C>T	XP_011525184.1:p.Pro342Leu
XM_011526883.1:c.1163C>T	XP_011525185.1:p.Pro388Leu
XM_005258833.4:c.1163C>T	XP_005258890.1:p.Pro388Leu
XM_006723180.3:c.1163C>T	XP_006723243.1:p.Pro388Leu
XM_011526882.2:c.1025C>T	XP_011525184.1:p.Pro342Leu
XM_011526883.2:c.1163C>T	XP_011525185.1:p.Pro388Leu
NM_001394372.1:c.1163C>T MANE Select	NP_001381301.1:p.Pro388Leu