Canonical Allele Identifier: CA368451452

Gene: MCM7

Linked Data

• MyVariant Identifiers: chr7:g.99696233T>A (hg19) ; chr7:g.100098610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098610T>A , CM000669.2:g.100098610T>A	GRCh38
NC_000007.13:g.99696233T>A , CM000669.1:g.99696233T>A	GRCh37
NC_000007.12:g.99534169T>A	NCBI36
NG_016312.1:g.2104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.367A>T	ENSP00000411295.2:p.Ile123Phe
ENST00000485286.6:n.1300A>T
ENST00000489841.6:n.1409A>T
ENST00000710813.1:c.367A>T	ENSP00000518500.1:p.Ile123Phe
ENST00000710814.1:c.367A>T	ENSP00000518501.1:p.Ile123Phe
ENST00000710815.1:c.367A>T	ENSP00000518502.1:p.Ile123Phe
ENST00000303887.10:c.688A>T MANE Select	ENSP00000307288.5:p.Ile230Phe
ENST00000303887.9:c.688A>T	ENSP00000307288.5:p.Ile230Phe
ENST00000343023.10:c.688A>T	ENSP00000344006.6:p.Ile230Phe
ENST00000354230.7:c.160A>T	ENSP00000346171.3:p.Ile54Phe
ENST00000425308.5:c.367A>T	ENSP00000411295.1:p.Ile123Phe
ENST00000463722.5:n.1063A>T
ENST00000485286.5:n.1277A>T
ENST00000489841.5:n.839A>T
ENST00000491245.6:c.85+1043A>T
ENST00000621318.4:c.160A>T	ENSP00000483795.1:p.Ile54Phe
NM_001278595.1:c.160A>T	NP_001265524.1:p.Ile54Phe
NM_005916.4:c.688A>T	NP_005907.3:p.Ile230Phe
NM_182776.2:c.160A>T	NP_877577.1:p.Ile54Phe
XM_005250348.2:c.367A>T	XP_005250405.1:p.Ile123Phe
XM_005250348.3:c.367A>T	XP_005250405.1:p.Ile123Phe
XM_017012217.2:c.367A>T	XP_016867706.1:p.Ile123Phe
NM_001278595.2:c.160A>T	NP_001265524.1:p.Ile54Phe
NM_005916.5:c.688A>T MANE Select	NP_005907.3:p.Ile230Phe
NM_182776.3:c.160A>T	NP_877577.1:p.Ile54Phe