Canonical Allele Identifier: CA174820

Gene: BTBD16

Linked Data

• ClinVar Variation Id: 161806
• ClinVar RCV Id: RCV000149342
• dbSNP Id: rs193920863
• gnomAD v2: 10-124036369-C-T
• gnomAD v4: 10-122276854-C-T
• MyVariant Identifiers: chr10:g.124036369C>T (hg19) ; chr10:g.122276854C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122276854C>T , CM000672.2:g.122276854C>T	GRCh38
NC_000010.10:g.124036369C>T , CM000672.1:g.124036369C>T	GRCh37
NC_000010.9:g.124026359C>T	NCBI36
NG_051638.1:g.11110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260723.6:c.82C>T MANE Select	ENSP00000260723.4:p.Pro28Ser
ENST00000260723.4:c.82C>T	ENSP00000260723.4:p.Pro28Ser
NM_144587.2:c.82C>T	NP_653188.2:p.Pro28Ser
XM_011539238.1:c.85C>T	XP_011537540.1:p.Pro29Ser
XM_011539239.1:c.85C>T	XP_011537541.1:p.Pro29Ser
XM_011539240.1:c.85C>T	XP_011537542.1:p.Pro29Ser
XM_011539241.1:c.85C>T	XP_011537543.1:p.Pro29Ser
XM_011539242.1:c.85C>T	XP_011537544.1:p.Pro29Ser
XM_011539243.1:c.85C>T	XP_011537545.1:p.Pro29Ser
NM_001318189.1:c.85C>T	NP_001305118.1:p.Pro29Ser
NM_144587.3:c.82C>T	NP_653188.2:p.Pro28Ser
XM_011539239.2:c.85C>T	XP_011537541.1:p.Pro29Ser
XM_011539240.2:c.85C>T	XP_011537542.1:p.Pro29Ser
XM_011539241.2:c.85C>T	XP_011537543.1:p.Pro29Ser
XM_011539242.2:c.85C>T	XP_011537544.1:p.Pro29Ser
XM_017015636.1:c.85C>T	XP_016871125.1:p.Pro29Ser
XM_017015637.1:c.-120+1755C>T	XP_016871126.1:n.-120+1755C>T
NM_001318189.2:c.85C>T	NP_001305118.1:p.Pro29Ser
NM_144587.5:c.82C>T MANE Select	NP_653188.2:p.Pro28Ser
NM_001318189.3:c.85C>T	NP_001305118.1:p.Pro29Ser