Canonical Allele Identifier: CA406313946

Gene: BCAM

Linked Data

• MyVariant Identifiers: chr19:g.45315489A>C (hg19) ; chr19:g.44812232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44812232A>C , CM000681.2:g.44812232A>C	GRCh38
NC_000019.9:g.45315489A>C , CM000681.1:g.45315489A>C	GRCh37
NC_000019.8:g.50007329A>C	NCBI36
NG_007480.1:g.8152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270233.12:c.274A>C MANE Select	ENSP00000270233.5:p.Met92Leu
ENST00000591520.6:c.211A>C	ENSP00000467100.2:p.Met71Leu
ENST00000611077.5:c.274A>C	ENSP00000481153.1:p.Met92Leu
ENST00000270233.10:c.274A>C	ENSP00000270233.5:p.Met92Leu
ENST00000588603.1:n.269A>C
ENST00000589651.5:c.274A>C	ENSP00000476710.1:p.Met92Leu
ENST00000591520.5:c.211A>C	ENSP00000467100.1:p.Met71Leu
ENST00000611077.4:c.274A>C	ENSP00000481153.1:p.Met92Leu
NM_001013257.2:c.274A>C	NP_001013275.1:p.Met92Leu
NM_005581.4:c.274A>C	NP_005572.2:p.Met92Leu
NM_005581.5:c.274A>C MANE Select	NP_005572.2:p.Met92Leu