Canonical Allele Identifier: CA365317715

Gene: BVES

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.105124617A>C , CM000668.2:g.105124617A>C	GRCh38
NC_000006.11:g.105572492A>C , CM000668.1:g.105572492A>C	GRCh37
NC_000006.10:g.105679185A>C	NCBI36
NG_046732.1:g.17558T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001199563.2:c.578T>G MANE Select	NP_001186492.1:p.Ile193Ser
ENST00000314641.10:c.578T>G MANE Select	ENSP00000313172.5:p.Ile193Ser
NM_001199563.1:c.578T>G	NP_001186492.1:p.Ile193Ser
NM_007073.4:c.578T>G	NP_009004.2:p.Ile193Ser
NM_147147.3:c.578T>G	NP_671488.1:p.Ile193Ser
NM_147147.4:c.578T>G	NP_671488.1:p.Ile193Ser
ENST00000314641.9:c.578T>G	ENSP00000313172.5:p.Ile193Ser
ENST00000336775.9:c.578T>G	ENSP00000337259.5:p.Ile193Ser
ENST00000446408.2:c.578T>G	ENSP00000397310.2:p.Ile193Ser
XM_011535398.1:c.578T>G	XP_011533700.1:p.Ile193Ser
XM_011535398.2:c.578T>G	XP_011533700.1:p.Ile193Ser