Canonical Allele Identifier: CA371335811

Gene: CYP7B1

Linked Data

• COSMIC: COSM5063287
• MyVariant Identifiers: chr8:g.65528685A>G (hg19) ; chr8:g.64616128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616128A>G , CM000670.2:g.64616128A>G	GRCh38
NC_000008.10:g.65528685A>G , CM000670.1:g.65528685A>G	GRCh37
NC_000008.9:g.65691239A>G	NCBI36
NG_008338.1:g.187664T>C
NG_008338.2:g.187664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.413T>C MANE Select	ENSP00000310721.3:p.Leu138Pro
ENST00000310193.3:c.413T>C	ENSP00000310721.3:p.Leu138Pro
NM_004820.3:c.413T>C	NP_004811.1:p.Leu138Pro
NM_001324112.1:c.413T>C	NP_001311041.1:p.Leu138Pro
NM_004820.4:c.413T>C	NP_004811.1:p.Leu138Pro
XM_017014002.1:c.479T>C	XP_016869491.1:p.Leu160Pro
NM_004820.5:c.413T>C MANE Select	NP_004811.1:p.Leu138Pro
NM_001324112.2:c.413T>C	NP_001311041.1:p.Leu138Pro