Canonical Allele Identifier: CA368452230

Gene: MCM7

Linked Data

• MyVariant Identifiers: chr7:g.99696313A>T (hg19) ; chr7:g.100098690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098690A>T , CM000669.2:g.100098690A>T	GRCh38
NC_000007.13:g.99696313A>T , CM000669.1:g.99696313A>T	GRCh37
NC_000007.12:g.99534249A>T	NCBI36
NG_016312.1:g.2184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.287T>A	ENSP00000411295.2:p.Leu96Gln
ENST00000485286.6:n.1220T>A
ENST00000489841.6:n.1329T>A
ENST00000710813.1:c.287T>A	ENSP00000518500.1:p.Leu96Gln
ENST00000710814.1:c.287T>A	ENSP00000518501.1:p.Leu96Gln
ENST00000710815.1:c.287T>A	ENSP00000518502.1:p.Leu96Gln
ENST00000303887.10:c.608T>A MANE Select	ENSP00000307288.5:p.Leu203Gln
ENST00000303887.9:c.608T>A	ENSP00000307288.5:p.Leu203Gln
ENST00000343023.10:c.608T>A	ENSP00000344006.6:p.Leu203Gln
ENST00000354230.7:c.80T>A	ENSP00000346171.3:p.Leu27Gln
ENST00000425308.5:c.287T>A	ENSP00000411295.1:p.Leu96Gln
ENST00000463722.5:n.983T>A
ENST00000485286.5:n.1197T>A
ENST00000489841.5:n.759T>A
ENST00000491245.6:c.85+963T>A
ENST00000621318.4:c.80T>A	ENSP00000483795.1:p.Leu27Gln
NM_001278595.1:c.80T>A	NP_001265524.1:p.Leu27Gln
NM_005916.4:c.608T>A	NP_005907.3:p.Leu203Gln
NM_182776.2:c.80T>A	NP_877577.1:p.Leu27Gln
XM_005250348.2:c.287T>A	XP_005250405.1:p.Leu96Gln
XM_005250348.3:c.287T>A	XP_005250405.1:p.Leu96Gln
XM_017012217.2:c.287T>A	XP_016867706.1:p.Leu96Gln
NM_001278595.2:c.80T>A	NP_001265524.1:p.Leu27Gln
NM_005916.5:c.608T>A MANE Select	NP_005907.3:p.Leu203Gln
NM_182776.3:c.80T>A	NP_877577.1:p.Leu27Gln