Canonical Allele Identifier: CA368319085

Gene: ARPC1B

Linked Data

• ClinVar Variation Id: 444878
• ClinVar RCV Id: RCV000512862
• dbSNP Id: rs1186149065
• gnomAD v4: 7-99388183-C-T
• MyVariant Identifiers: chr7:g.98985806C>T (hg19) ; chr7:g.99388183C>T (hg38)
• PubMed: PMID:28368018

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99388183C>T , CM000669.2:g.99388183C>T	GRCh38
NC_000007.13:g.98985806C>T , CM000669.1:g.98985806C>T	GRCh37
NC_000007.12:g.98823742C>T	NCBI36
NG_055676.1:g.18509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414376.6:c.314C>T	ENSP00000398620.2:p.Ala105Val
ENST00000695607.1:n.413C>T
ENST00000695608.1:n.384C>T
ENST00000695609.1:n.379C>T
ENST00000417330.6:c.314C>T	ENSP00000403324.2:p.Ala105Val
ENST00000427217.6:c.314C>T	ENSP00000403211.2:p.Ala105Val
ENST00000431816.6:c.314C>T	ENSP00000398110.2:p.Ala105Val
ENST00000443222.6:c.314C>T	ENSP00000413173.2:p.Ala105Val
ENST00000455009.6:c.314C>T	ENSP00000410238.2:p.Ala105Val
ENST00000458033.6:c.314C>T	ENSP00000388802.2:p.Ala105Val
ENST00000638617.1:c.1310C>T	ENSP00000491073.1:p.Ala437Val
ENST00000645391.1:c.314C>T	ENSP00000494033.1:p.Ala105Val
ENST00000646101.2:c.314C>T MANE Select	ENSP00000496599.1:p.Ala105Val
ENST00000252725.9:c.314C>T	ENSP00000252725.5:p.Ala105Val
ENST00000417330.5:c.314C>T	ENSP00000403324.1:p.Ala105Val
ENST00000427217.5:c.314C>T	ENSP00000403211.1:p.Ala105Val
ENST00000431816.5:c.314C>T	ENSP00000398110.1:p.Ala105Val
ENST00000432343.1:c.314C>T	ENSP00000399955.2:p.Ala105Val
ENST00000443222.5:c.314C>T	ENSP00000413173.1:p.Ala105Val
ENST00000445924.5:c.*313C>T	ENSP00000408508.1:n.*313C>T
ENST00000451682.5:c.314C>T	ENSP00000389631.1:p.Ala105Val
ENST00000455009.5:c.314C>T	ENSP00000410238.1:p.Ala105Val
ENST00000458033.5:c.314C>T	ENSP00000388802.1:p.Ala105Val
ENST00000474880.5:n.329C>T
ENST00000484375.5:n.402C>T
ENST00000484600.6:n.379C>T
ENST00000493403.1:n.472C>T
NM_005720.3:c.314C>T	NP_005711.1:p.Ala105Val
XM_006715825.1:c.314C>T	XP_006715888.1:p.Ala105Val
XM_006715826.1:c.314C>T	XP_006715889.1:p.Ala105Val
NM_005720.4:c.314C>T MANE Select	NP_005711.1:p.Ala105Val
XM_006715825.2:c.314C>T	XP_006715888.1:p.Ala105Val
XM_006715826.2:c.314C>T	XP_006715889.1:p.Ala105Val
XM_024446628.1:c.314C>T	XP_024302396.1:p.Ala105Val
XM_024446629.1:c.314C>T	XP_024302397.1:p.Ala105Val