Canonical Allele Identifier: CA173469160

Gene: BMP1

Linked Data

• dbSNP Id: rs527798004
• gnomAD v2: 8-22058970-C-T
• gnomAD v3: 8-22201457-C-T
• gnomAD v4: 8-22201457-C-T
• MyVariant Identifiers: chr8:g.22058970C>T (hg19) ; chr8:g.22201457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22201457C>T , CM000670.2:g.22201457C>T	GRCh38
NC_000008.10:g.22058970C>T , CM000670.1:g.22058970C>T	GRCh37
NC_000008.9:g.22114915C>T	NCBI36
NG_029659.1:g.41318C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000306349.13:c.*254C>T MANE Plus Clinical	ENSP00000306121.8:n.*254C>T
ENST00000306385.10:c.2108-346C>T MANE Select	ENSP00000305714.5:n.2108-346C>T
ENST00000520626.6:c.*2294C>T	ENSP00000430015.2:n.*2294C>T
ENST00000306349.12:c.*254C>T	ENSP00000306121.8:n.*254C>T
ENST00000306385.9:c.2108-346C>T	ENSP00000305714.5:n.2108-346C>T
ENST00000354870.5:c.*1365-346C>T	ENSP00000346941.5:n.*1365-346C>T
ENST00000518913.5:c.*1914C>T	ENSP00000427950.1:n.*1914C>T
ENST00000520626.5:c.*2294C>T	ENSP00000430015.1:n.*2294C>T
ENST00000520970.5:c.*254C>T	ENSP00000428332.1:n.*254C>T
ENST00000520982.5:c.*1575-346C>T	ENSP00000428798.1:n.*1575-346C>T
ENST00000522332.1:n.1312C>T
NM_001199.3:c.*254C>T	NP_001190.1:n.*254C>T
NM_006129.4:c.2108-346C>T	NP_006120.1:n.2108-346C>T
NR_033403.1:n.2411-346C>T
NR_033404.1:n.2750C>T
XR_949458.1:n.2481-346C>T
XR_001745579.2:n.2655C>T
XR_949458.2:n.2423-346C>T
NM_006129.5:c.2108-346C>T MANE Select	NP_006120.1:n.2108-346C>T
NM_001199.4:c.*254C>T MANE Plus Clinical	NP_001190.1:n.*254C>T
NR_033403.2:n.2179-346C>T
NR_033404.2:n.2518C>T