Canonical Allele Identifier: CA371335871

Gene: CYP7B1

Linked Data

• COSMIC: COSM1101011
• MyVariant Identifiers: chr8:g.65528709T>G (hg19) ; chr8:g.64616152T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616152T>G , CM000670.2:g.64616152T>G	GRCh38
NC_000008.10:g.65528709T>G , CM000670.1:g.65528709T>G	GRCh37
NC_000008.9:g.65691263T>G	NCBI36
NG_008338.1:g.187640A>C
NG_008338.2:g.187640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.389A>C MANE Select	ENSP00000310721.3:p.Lys130Thr
ENST00000310193.3:c.389A>C	ENSP00000310721.3:p.Lys130Thr
NM_004820.3:c.389A>C	NP_004811.1:p.Lys130Thr
NM_001324112.1:c.389A>C	NP_001311041.1:p.Lys130Thr
NM_004820.4:c.389A>C	NP_004811.1:p.Lys130Thr
XM_017014002.1:c.455A>C	XP_016869491.1:p.Lys152Thr
NM_004820.5:c.389A>C MANE Select	NP_004811.1:p.Lys130Thr
NM_001324112.2:c.389A>C	NP_001311041.1:p.Lys130Thr