Canonical Allele Identifier: CA371335730
Gene: CYP7B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616093A>T , CM000670.2:g.64616093A>T GRCh38
NC_000008.10:g.65528650A>T , CM000670.1:g.65528650A>T GRCh37
NC_000008.9:g.65691204A>T NCBI36
NG_008338.1:g.187699T>A
NG_008338.2:g.187699T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.448T>A MANE Select ENSP00000310721.3:p.Leu150Met
ENST00000310193.3:c.448T>A ENSP00000310721.3:p.Leu150Met
NM_004820.3:c.448T>A NP_004811.1:p.Leu150Met
NM_001324112.1:c.448T>A NP_001311041.1:p.Leu150Met
NM_004820.4:c.448T>A NP_004811.1:p.Leu150Met
XM_017014002.1:c.514T>A XP_016869491.1:p.Leu172Met
NM_004820.5:c.448T>A MANE Select NP_004811.1:p.Leu150Met
NM_001324112.2:c.448T>A NP_001311041.1:p.Leu150Met