Canonical Allele Identifier: CA4373222

Gene: MCM7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100093021G>A , CM000669.2:g.100093021G>A	GRCh38
NC_000007.13:g.99690644G>A , CM000669.1:g.99690644G>A	GRCh37
NC_000007.12:g.99528580G>A	NCBI36
NG_046973.1:g.9062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.1750C>T	ENSP00000411295.2:p.Pro584Ser
ENST00000485286.6:n.2683C>T
ENST00000489841.6:n.2792C>T
ENST00000710813.1:c.1750C>T	ENSP00000518500.1:p.Pro584Ser
ENST00000710814.1:c.*176C>T	ENSP00000518501.1:n.*176C>T
ENST00000710815.1:c.1750C>T	ENSP00000518502.1:p.Pro584Ser
ENST00000303887.10:c.2071C>T MANE Select	ENSP00000307288.5:p.Pro691Ser
ENST00000303887.9:c.2071C>T	ENSP00000307288.5:p.Pro691Ser
ENST00000343023.10:c.1081C>T	ENSP00000344006.6:p.Pro361Ser
ENST00000354230.7:c.1543C>T	ENSP00000346171.3:p.Pro515Ser
ENST00000485286.5:n.2660C>T
ENST00000489841.5:n.2222C>T
ENST00000621318.4:c.1543C>T	ENSP00000483795.1:p.Pro515Ser
NM_001278595.1:c.1543C>T	NP_001265524.1:p.Pro515Ser
NM_005916.4:c.2071C>T	NP_005907.3:p.Pro691Ser
NM_182776.2:c.1543C>T	NP_877577.1:p.Pro515Ser
XM_005250348.2:c.1750C>T	XP_005250405.1:p.Pro584Ser
XM_005250348.3:c.1750C>T	XP_005250405.1:p.Pro584Ser
XM_017012217.2:c.1750C>T	XP_016867706.1:p.Pro584Ser
NM_001278595.2:c.1543C>T	NP_001265524.1:p.Pro515Ser
NM_005916.5:c.2071C>T MANE Select	NP_005907.3:p.Pro691Ser
NM_182776.3:c.1543C>T	NP_877577.1:p.Pro515Ser