Canonical Allele Identifier: CA725553

Gene: MECR

Linked Data

• ClinVar Variation Id: 489272
• ClinVar RCV Id: RCV000579084
• dbSNP Id: rs374970921
• ExAC: 1:29520702 T / C
• gnomAD v2: 1-29520702-T-C
• gnomAD v3: 1-29194190-T-C
• gnomAD v4: 1-29194190-T-C
• MyVariant Identifiers: chr1:g.29520702T>C (hg19) ; chr1:g.29194190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.29194190T>C , CM000663.2:g.29194190T>C	GRCh38
NC_000001.10:g.29520702T>C , CM000663.1:g.29520702T>C	GRCh37
NC_000001.9:g.29393289T>C	NCBI36
NG_053058.1:g.41769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263702.11:c.965-11A>G MANE Select	ENSP00000263702.6:n.965-11A>G
ENST00000263702.10:c.965-11A>G	ENSP00000263702.6:n.965-11A>G
ENST00000373791.7:c.737-11A>G	ENSP00000362896.3:n.737-11A>G
ENST00000463412.1:c.768-11A>G	ENSP00000436831.1:n.768-11A>G
ENST00000473030.5:n.614-11A>G
ENST00000475773.5:n.412-11A>G
ENST00000483435.5:n.209-11A>G
NM_001024732.2:c.737-11A>G	NP_001019903.2:n.737-11A>G
NM_016011.3:c.965-11A>G	NP_057095.3:n.965-11A>G
XM_005245885.1:c.1049-11A>G	XP_005245942.1:n.1049-11A>G
XM_005245887.1:c.737-11A>G	XP_005245944.1:n.737-11A>G
XM_011541539.1:c.1223-11A>G	XP_011539841.1:n.1223-11A>G
XM_011541540.1:c.1139-11A>G	XP_011539842.1:n.1139-11A>G
XM_011541541.1:c.1078-11A>G	XP_011539843.1:n.1078-11A>G
XM_011541542.1:c.911-11A>G	XP_011539844.1:n.911-11A>G
XM_011541543.1:c.911-11A>G	XP_011539845.1:n.911-11A>G
XM_011541544.1:c.911-11A>G	XP_011539846.1:n.911-11A>G
XM_011541545.1:c.911-11A>G	XP_011539847.1:n.911-11A>G
XM_011541546.1:c.911-11A>G	XP_011539848.1:n.911-11A>G
XM_011541547.1:c.911-11A>G	XP_011539849.1:n.911-11A>G
XM_011541548.1:c.911-11A>G	XP_011539850.1:n.911-11A>G
XM_011541549.1:c.911-11A>G	XP_011539851.1:n.911-11A>G
XM_011541550.1:c.911-11A>G	XP_011539852.1:n.911-11A>G
XM_011541551.1:c.911-11A>G	XP_011539853.1:n.911-11A>G
XM_011541552.1:c.911-11A>G	XP_011539854.1:n.911-11A>G
XM_011541553.1:c.911-11A>G	XP_011539855.1:n.911-11A>G
XM_011541554.1:c.911-11A>G	XP_011539856.1:n.911-11A>G
XR_946662.1:n.1241-11A>G
XR_946663.1:n.1212-11A>G
XR_946664.1:n.964-11A>G
NM_001024732.3:c.737-11A>G	NP_001019903.3:n.737-11A>G
NM_001349711.1:c.737-11A>G	NP_001336640.1:n.737-11A>G
NM_001349712.1:c.737-11A>G	NP_001336641.1:n.737-11A>G
NM_001349713.1:c.737-11A>G	NP_001336642.1:n.737-11A>G
NM_001349714.1:c.737-11A>G	NP_001336643.1:n.737-11A>G
NM_001349715.1:c.1070-11A>G	NP_001336644.1:n.1070-11A>G
NM_001349716.1:c.1049-11A>G	NP_001336645.1:n.1049-11A>G
NM_001349717.1:c.815-11A>G	NP_001336646.1:n.815-11A>G
NM_016011.4:c.965-11A>G	NP_057095.4:n.965-11A>G
NR_146212.1:n.1250-11A>G
NR_146213.1:n.1017-11A>G
NR_146214.1:n.1270-11A>G
NR_146215.1:n.1144-11A>G
XM_011541540.2:c.1139-11A>G	XP_011539842.1:n.1139-11A>G
XM_017001411.1:c.911-11A>G	XP_016856900.1:n.911-11A>G
XM_017001412.1:c.911-11A>G	XP_016856901.1:n.911-11A>G
XM_017001413.1:c.737-11A>G	XP_016856902.1:n.737-11A>G
XM_017001416.1:c.766-11A>G	XP_016856905.1:n.766-11A>G
XM_024447442.1:c.737-11A>G	XP_024303210.1:n.737-11A>G
XM_024447443.1:c.737-11A>G	XP_024303211.1:n.737-11A>G
XM_024447444.1:c.737-11A>G	XP_024303212.1:n.737-11A>G
XM_024447446.1:c.737-11A>G	XP_024303214.1:n.737-11A>G
XM_024447448.1:c.737-11A>G	XP_024303216.1:n.737-11A>G
XM_024447450.1:c.737-11A>G	XP_024303218.1:n.737-11A>G
XM_024447452.1:c.766-11A>G	XP_024303220.1:n.766-11A>G
XR_001737209.1:n.1318-11A>G
XR_001737210.1:n.1587-11A>G
XR_002956765.1:n.1299-11A>G
XR_946663.2:n.1212-11A>G
NM_001024732.4:c.737-11A>G	NP_001019903.3:n.737-11A>G
NM_001349711.2:c.737-11A>G	NP_001336640.1:n.737-11A>G
NM_001349712.2:c.737-11A>G	NP_001336641.1:n.737-11A>G
NM_001349713.2:c.737-11A>G	NP_001336642.1:n.737-11A>G
NM_001349714.2:c.737-11A>G	NP_001336643.1:n.737-11A>G
NM_001349715.2:c.1070-11A>G	NP_001336644.1:n.1070-11A>G
NM_001349716.2:c.1049-11A>G	NP_001336645.1:n.1049-11A>G
NM_001349717.2:c.815-11A>G	NP_001336646.1:n.815-11A>G
NM_016011.5:c.965-11A>G MANE Select	NP_057095.4:n.965-11A>G
NR_146212.2:n.1226-11A>G
NR_146213.2:n.993-11A>G
NR_146214.2:n.1246-11A>G
NR_146215.2:n.1120-11A>G