Canonical Allele Identifier: CA368451651

Gene: MCM7

Linked Data

• MyVariant Identifiers: chr7:g.99696253T>A (hg19) ; chr7:g.100098630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098630T>A , CM000669.2:g.100098630T>A	GRCh38
NC_000007.13:g.99696253T>A , CM000669.1:g.99696253T>A	GRCh37
NC_000007.12:g.99534189T>A	NCBI36
NG_016312.1:g.2124T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.347A>T	ENSP00000411295.2:p.Gln116Leu
ENST00000485286.6:n.1280A>T
ENST00000489841.6:n.1389A>T
ENST00000710813.1:c.347A>T	ENSP00000518500.1:p.Gln116Leu
ENST00000710814.1:c.347A>T	ENSP00000518501.1:p.Gln116Leu
ENST00000710815.1:c.347A>T	ENSP00000518502.1:p.Gln116Leu
ENST00000303887.10:c.668A>T MANE Select	ENSP00000307288.5:p.Gln223Leu
ENST00000303887.9:c.668A>T	ENSP00000307288.5:p.Gln223Leu
ENST00000343023.10:c.668A>T	ENSP00000344006.6:p.Gln223Leu
ENST00000354230.7:c.140A>T	ENSP00000346171.3:p.Gln47Leu
ENST00000425308.5:c.347A>T	ENSP00000411295.1:p.Gln116Leu
ENST00000463722.5:n.1043A>T
ENST00000485286.5:n.1257A>T
ENST00000489841.5:n.819A>T
ENST00000491245.6:c.85+1023A>T
ENST00000621318.4:c.140A>T	ENSP00000483795.1:p.Gln47Leu
NM_001278595.1:c.140A>T	NP_001265524.1:p.Gln47Leu
NM_005916.4:c.668A>T	NP_005907.3:p.Gln223Leu
NM_182776.2:c.140A>T	NP_877577.1:p.Gln47Leu
XM_005250348.2:c.347A>T	XP_005250405.1:p.Gln116Leu
XM_005250348.3:c.347A>T	XP_005250405.1:p.Gln116Leu
XM_017012217.2:c.347A>T	XP_016867706.1:p.Gln116Leu
NM_001278595.2:c.140A>T	NP_001265524.1:p.Gln47Leu
NM_005916.5:c.668A>T MANE Select	NP_005907.3:p.Gln223Leu
NM_182776.3:c.140A>T	NP_877577.1:p.Gln47Leu