Canonical Allele Identifier: CA10948028

Gene: MYBPHL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109306632A>G , CM000663.2:g.109306632A>G	GRCh38
NC_000001.10:g.109849254A>G , CM000663.1:g.109849254A>G	GRCh37
NC_000001.9:g.109650777A>G	NCBI36
NG_032757.1:g.5410T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001010985.3:c.145+215T>C MANE Select	NP_001010985.2:n.145+215T>C
ENST00000357155.2:c.145+215T>C MANE Select	ENSP00000349678.1:n.145+215T>C
NM_001010985.2:c.145+215T>C	NP_001010985.2:n.145+215T>C
NM_001265613.1:c.145+215T>C	NP_001252542.1:n.145+215T>C
NM_001265613.2:c.145+215T>C	NP_001252542.1:n.145+215T>C
ENST00000357155.1:c.145+215T>C	ENSP00000349678.1:n.145+215T>C
ENST00000477962.1:n.149+215T>C
XM_017001173.1:c.145+215T>C	XP_016856662.1:n.145+215T>C
XM_017001174.1:c.145+215T>C	XP_016856663.1:n.145+215T>C
XM_017001175.1:c.145+215T>C	XP_016856664.1:n.145+215T>C