Canonical Allele Identifier: CA362261227

Gene: SNCB

Linked Data

• ClinVar Variation Id: 2314526
• ClinVar RCV Id: RCV004156799
• gnomAD v4: 5-176626449-G-C
• MyVariant Identifiers: chr5:g.176053450G>C (hg19) ; chr5:g.176626449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176626449G>C , CM000667.2:g.176626449G>C	GRCh38
NC_000005.9:g.176053450G>C , CM000667.1:g.176053450G>C	GRCh37
NC_000005.8:g.175986056G>C	NCBI36
NG_012131.1:g.9108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393693.7:c.231C>G MANE Select	ENSP00000377296.2:p.Ile77Met
ENST00000310112.7:c.231C>G	ENSP00000308057.3:p.Ile77Met
ENST00000393693.6:c.231C>G	ENSP00000377296.2:p.Ile77Met
ENST00000506696.1:c.231C>G	ENSP00000422223.1:p.Ile77Met
ENST00000508006.1:n.828C>G
ENST00000510387.5:c.231C>G	ENSP00000424073.1:p.Ile77Met
ENST00000614675.4:c.189C>G	ENSP00000479489.1:p.Ile63Met
NM_001001502.1:c.231C>G	NP_001001502.1:p.Ile77Met
NM_003085.3:c.231C>G	NP_003076.1:p.Ile77Met
XM_006714914.2:c.231C>G	XP_006714977.1:p.Ile77Met
XM_006714915.2:c.231C>G	XP_006714978.1:p.Ile77Met
XM_006714916.1:c.231C>G	XP_006714979.1:p.Ile77Met
XM_011534640.1:c.231C>G	XP_011532942.1:p.Ile77Met
NM_001001502.2:c.231C>G	NP_001001502.1:p.Ile77Met
NM_001318034.1:c.189C>G	NP_001304963.1:p.Ile63Met
NM_001318035.1:c.231C>G	NP_001304964.1:p.Ile77Met
NM_001318036.1:c.189C>G	NP_001304965.1:p.Ile63Met
NM_001318037.1:c.231C>G	NP_001304966.1:p.Ile77Met
NM_001363140.1:c.231C>G	NP_001350069.1:p.Ile77Met
NM_003085.4:c.231C>G	NP_003076.1:p.Ile77Met
XM_006714914.3:c.231C>G	XP_006714977.1:p.Ile77Met
XM_006714915.3:c.231C>G	XP_006714978.1:p.Ile77Met
XM_006714916.3:c.231C>G	XP_006714979.1:p.Ile77Met
XM_011534640.2:c.231C>G	XP_011532942.1:p.Ile77Met
NM_003085.5:c.231C>G MANE Select	NP_003076.1:p.Ile77Met
NM_001001502.3:c.231C>G	NP_001001502.1:p.Ile77Met
NM_001318035.2:c.231C>G	NP_001304964.1:p.Ile77Met
NM_001318036.2:c.189C>G	NP_001304965.1:p.Ile63Met
NM_001318037.2:c.231C>G	NP_001304966.1:p.Ile77Met
NM_001363140.2:c.231C>G	NP_001350069.1:p.Ile77Met
NM_001318034.2:c.189C>G	NP_001304963.1:p.Ile63Met