Canonical Allele Identifier: CA398692177

Gene: B9D1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19343326G>A , CM000679.2:g.19343326G>A	GRCh38
NC_000017.10:g.19246639G>A , CM000679.1:g.19246639G>A	GRCh37
NC_000017.9:g.19187232G>A	NCBI36
NG_031885.1:g.39857C>T
NG_031885.2:g.39868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261499.11:c.608C>T MANE Select	ENSP00000261499.4:p.Pro203Leu
ENST00000261499.10:c.608C>T	ENSP00000261499.4:p.Pro203Leu
ENST00000477478.7:c.*384C>T	ENSP00000460939.2:n.*384C>T
ENST00000582857.2:c.112+464C>T	ENSP00000463165.2:n.112+464C>T
ENST00000642870.2:c.248C>T	ENSP00000496409.2:p.Pro83Leu
ENST00000646248.1:c.435C>T	ENSP00000493599.1:n.435C>T
ENST00000647056.1:c.*86+464C>T	ENSP00000496502.1:n.*86+464C>T
ENST00000647252.1:c.*384C>T	ENSP00000495045.1:n.*384C>T
ENST00000663089.1:c.*384C>T	ENSP00000499469.1:n.*384C>T
ENST00000671102.1:c.535+464C>T	ENSP00000499690.1:n.535+464C>T
ENST00000674596.1:c.297+464C>T	ENSP00000501877.1:n.297+464C>T
ENST00000675510.1:c.404+3943C>T	ENSP00000501817.1:n.404+3943C>T
ENST00000261499.8:c.608C>T	ENSP00000261499.4:p.Pro203Leu
ENST00000395615.5:c.*156C>T	ENSP00000378977.1:n.*156C>T
ENST00000461069.6:c.472+464C>T	ENSP00000433359.2:n.472+464C>T
ENST00000477478.6:c.*221C>T	ENSP00000460939.1:n.*221C>T
ENST00000575403.5:c.399+464C>T	ENSP00000459857.1:n.399+464C>T
NM_001243473.1:c.*221C>T	NP_001230402.1:n.*221C>T
NM_001243475.1:c.399+464C>T	NP_001230404.1:n.399+464C>T
NM_015681.3:c.608C>T	NP_056496.1:p.Pro203Leu
XM_005256605.2:c.472+464C>T	XP_005256662.1:n.472+464C>T
XM_005256607.2:c.*156C>T	XP_005256664.1:n.*156C>T
XM_005256608.2:c.404+3943C>T	XP_005256665.1:n.404+3943C>T
XM_011523794.1:c.472+464C>T	XP_011522096.1:n.472+464C>T
NM_001243473.2:c.*221C>T	NP_001230402.1:n.*221C>T
NM_001243475.2:c.399+464C>T	NP_001230404.1:n.399+464C>T
NM_001321214.1:c.*133C>T	NP_001308143.1:n.*133C>T
NM_001321215.1:c.*384C>T	NP_001308144.1:n.*384C>T
NM_001321217.1:c.472+464C>T	NP_001308146.1:n.472+464C>T
NM_001321218.1:c.472+464C>T	NP_001308147.1:n.472+464C>T
NM_001321219.1:c.404+3943C>T	NP_001308148.1:n.404+3943C>T
NM_015681.4:c.608C>T	NP_056496.1:p.Pro203Leu
NM_001321214.2:c.*133C>T	NP_001308143.1:n.*133C>T
NM_001321215.2:c.*384C>T	NP_001308144.1:n.*384C>T
NM_001321217.2:c.472+464C>T	NP_001308146.1:n.472+464C>T
NM_001321218.2:c.472+464C>T	NP_001308147.1:n.472+464C>T
NM_001321219.2:c.404+3943C>T	NP_001308148.1:n.404+3943C>T
NM_001368769.2:c.112+464C>T	NP_001355698.1:n.112+464C>T
NM_015681.5:c.608C>T	NP_056496.1:p.Pro203Leu
NM_001321215.3:c.*384C>T	NP_001308144.1:n.*384C>T
NM_015681.6:c.608C>T MANE Select	NP_056496.1:p.Pro203Leu