Canonical Allele Identifier: CA371335594
Gene: CYP7B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.65528592A>C (hg19) chr8:g.64616035A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616035A>C , CM000670.2:g.64616035A>C GRCh38
NC_000008.10:g.65528592A>C , CM000670.1:g.65528592A>C GRCh37
NC_000008.9:g.65691146A>C NCBI36
NG_008338.1:g.187757T>G
NG_008338.2:g.187757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.506T>G MANE Select ENSP00000310721.3:p.Leu169Arg
ENST00000310193.3:c.506T>G ENSP00000310721.3:p.Leu169Arg
NM_004820.3:c.506T>G NP_004811.1:p.Leu169Arg
NM_001324112.1:c.506T>G NP_001311041.1:p.Leu169Arg
NM_004820.4:c.506T>G NP_004811.1:p.Leu169Arg
XM_017014002.1:c.572T>G XP_016869491.1:p.Leu191Arg
NM_004820.5:c.506T>G MANE Select NP_004811.1:p.Leu169Arg
NM_001324112.2:c.506T>G NP_001311041.1:p.Leu169Arg
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