Canonical Allele Identifier: CA10736166

Gene: MYBPHL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109297332G>C , CM000663.2:g.109297332G>C	GRCh38
NC_000001.10:g.109839954G>C , CM000663.1:g.109839954G>C	GRCh37
NC_000001.9:g.109641477G>C	NCBI36
NG_032757.1:g.14710C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001010985.3:c.430+90C>G MANE Select	NP_001010985.2:n.430+90C>G
ENST00000357155.2:c.430+90C>G MANE Select	ENSP00000349678.1:n.430+90C>G
NM_001010985.2:c.430+90C>G	NP_001010985.2:n.430+90C>G
NM_001265613.1:c.362-143C>G	NP_001252542.1:n.362-143C>G
NM_001265613.2:c.362-143C>G	NP_001252542.1:n.362-143C>G
ENST00000357155.1:c.430+90C>G	ENSP00000349678.1:n.430+90C>G
ENST00000477962.1:n.150-2035C>G
XM_017001173.1:c.430+90C>G	XP_016856662.1:n.430+90C>G
XM_017001174.1:c.430+90C>G	XP_016856663.1:n.430+90C>G
XM_017001175.1:c.362-143C>G	XP_016856664.1:n.362-143C>G