Canonical Allele Identifier: CA16608390

Gene: B9D1

Linked Data

• ClinVar Variation Id: 386519
• ClinVar RCV Id: RCV000427074
• dbSNP Id: rs1057522520
• MyVariant Identifiers: chr17:g.19246754C>A (hg19) ; chr17:g.19343441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343441C>A , CM000679.2:g.19343441C>A	GRCh38
NC_000017.10:g.19246754C>A , CM000679.1:g.19246754C>A	GRCh37
NC_000017.9:g.19187347C>A	NCBI36
NG_031885.1:g.39742G>T
NG_031885.2:g.39753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.493G>T MANE Select	ENSP00000261499.4:p.Gly165Cys
ENST00000261499.10:c.493G>T	ENSP00000261499.4:p.Gly165Cys
ENST00000477478.7:c.*269G>T	ENSP00000460939.2:n.*269G>T
ENST00000582857.2:c.112+349G>T	ENSP00000463165.2:n.112+349G>T
ENST00000642870.2:c.133G>T	ENSP00000496409.2:p.Gly45Cys
ENST00000646248.1:c.320G>T	ENSP00000493599.1:n.320G>T
ENST00000647056.1:c.*86+349G>T	ENSP00000496502.1:n.*86+349G>T
ENST00000647252.1:c.*269G>T	ENSP00000495045.1:n.*269G>T
ENST00000663089.1:c.*269G>T	ENSP00000499469.1:n.*269G>T
ENST00000671102.1:c.535+349G>T	ENSP00000499690.1:n.535+349G>T
ENST00000674596.1:c.297+349G>T	ENSP00000501877.1:n.297+349G>T
ENST00000675510.1:c.404+3828G>T	ENSP00000501817.1:n.404+3828G>T
ENST00000261499.8:c.493G>T	ENSP00000261499.4:p.Gly165Cys
ENST00000395615.5:c.*41G>T	ENSP00000378977.1:n.*41G>T
ENST00000461069.6:c.472+349G>T	ENSP00000433359.2:n.472+349G>T
ENST00000477478.6:c.*106G>T	ENSP00000460939.1:n.*106G>T
ENST00000575403.5:c.399+349G>T	ENSP00000459857.1:n.399+349G>T
NM_001243473.1:c.*106G>T	NP_001230402.1:n.*106G>T
NM_001243475.1:c.399+349G>T	NP_001230404.1:n.399+349G>T
NM_015681.3:c.493G>T	NP_056496.1:p.Gly165Cys
XM_005256605.2:c.472+349G>T	XP_005256662.1:n.472+349G>T
XM_005256607.2:c.*41G>T	XP_005256664.1:n.*41G>T
XM_005256608.2:c.404+3828G>T	XP_005256665.1:n.404+3828G>T
XM_011523793.1:c.*18G>T	XP_011522095.1:n.*18G>T
XM_011523794.1:c.472+349G>T	XP_011522096.1:n.472+349G>T
NM_001243473.2:c.*106G>T	NP_001230402.1:n.*106G>T
NM_001243475.2:c.399+349G>T	NP_001230404.1:n.399+349G>T
NM_001321214.1:c.*18G>T	NP_001308143.1:n.*18G>T
NM_001321215.1:c.*269G>T	NP_001308144.1:n.*269G>T
NM_001321217.1:c.472+349G>T	NP_001308146.1:n.472+349G>T
NM_001321218.1:c.472+349G>T	NP_001308147.1:n.472+349G>T
NM_001321219.1:c.404+3828G>T	NP_001308148.1:n.404+3828G>T
NM_015681.4:c.493G>T	NP_056496.1:p.Gly165Cys
NM_001321214.2:c.*18G>T	NP_001308143.1:n.*18G>T
NM_001321215.2:c.*269G>T	NP_001308144.1:n.*269G>T
NM_001321217.2:c.472+349G>T	NP_001308146.1:n.472+349G>T
NM_001321218.2:c.472+349G>T	NP_001308147.1:n.472+349G>T
NM_001321219.2:c.404+3828G>T	NP_001308148.1:n.404+3828G>T
NM_001368769.2:c.112+349G>T	NP_001355698.1:n.112+349G>T
NM_015681.5:c.493G>T	NP_056496.1:p.Gly165Cys
NM_001321215.3:c.*269G>T	NP_001308144.1:n.*269G>T
NM_015681.6:c.493G>T MANE Select	NP_056496.1:p.Gly165Cys