Canonical Allele Identifier: CA725650

Gene: MECR

Linked Data

• ClinVar Variation Id: 449055
• ClinVar RCV Id: RCV003314605
• dbSNP Id: rs756421370
• ExAC: 1:29527025 T / TA
• gnomAD v2: 1-29527025-T-TA
• gnomAD v3: 1-29200513-T-TA
• gnomAD v4: 1-29200513-T-TA
• MyVariant Identifiers: chr1:g.29527026dup (hg19) ; chr1:g.29527025_29527026insA (hg19) ; chr1:g.29200514dup (hg38) ; chr1:g.29200513_29200514insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.29200514dup , CM000663.2:g.29200514dup	GRCh38
NC_000001.10:g.29527026dup , CM000663.1:g.29527026dup	GRCh37
NC_000001.9:g.29399613dup	NCBI36
NG_053058.1:g.35445dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263702.11:c.830+2dup MANE Select	ENSP00000263702.6:n.830+2dup
ENST00000263702.10:c.830+2dup	ENSP00000263702.6:n.830+2dup
ENST00000373791.7:c.602+2dup	ENSP00000362896.3:n.602+2dup
ENST00000453185.5:n.492+2dup
ENST00000463412.1:c.449+2dup	ENSP00000436831.1:n.449+2dup
ENST00000464511.1:n.219dup
ENST00000473030.5:n.479+2dup
ENST00000475773.5:n.248+2dup
ENST00000478505.6:n.729+2dup
ENST00000483435.5:n.74+2dup
ENST00000490529.5:n.715+2dup
NM_001024732.2:c.602+2dup	NP_001019903.2:n.602+2dup
NM_016011.3:c.830+2dup	NP_057095.3:n.830+2dup
XM_005245885.1:c.914+2dup	XP_005245942.1:n.914+2dup
XM_005245887.1:c.602+2dup	XP_005245944.1:n.602+2dup
XM_011541539.1:c.1059+2dup	XP_011539841.1:n.1059+2dup
XM_011541540.1:c.975+2dup	XP_011539842.1:n.975+2dup
XM_011541541.1:c.914+2dup	XP_011539843.1:n.914+2dup
XM_011541542.1:c.747+2dup	XP_011539844.1:n.747+2dup
XM_011541543.1:c.747+2dup	XP_011539845.1:n.747+2dup
XM_011541544.1:c.747+2dup	XP_011539846.1:n.747+2dup
XM_011541545.1:c.747+2dup	XP_011539847.1:n.747+2dup
XM_011541546.1:c.747+2dup	XP_011539848.1:n.747+2dup
XM_011541547.1:c.747+2dup	XP_011539849.1:n.747+2dup
XM_011541548.1:c.747+2dup	XP_011539850.1:n.747+2dup
XM_011541549.1:c.747+2dup	XP_011539851.1:n.747+2dup
XM_011541550.1:c.747+2dup	XP_011539852.1:n.747+2dup
XM_011541551.1:c.747+2dup	XP_011539853.1:n.747+2dup
XM_011541552.1:c.747+2dup	XP_011539854.1:n.747+2dup
XM_011541553.1:c.747+2dup	XP_011539855.1:n.747+2dup
XM_011541554.1:c.747+2dup	XP_011539856.1:n.747+2dup
XR_946662.1:n.1077+2dup
XR_946663.1:n.1077+2dup
XR_946664.1:n.829+2dup
NM_001024732.3:c.602+2dup	NP_001019903.3:n.602+2dup
NM_001349711.1:c.602+2dup	NP_001336640.1:n.602+2dup
NM_001349712.1:c.602+2dup	NP_001336641.1:n.602+2dup
NM_001349713.1:c.602+2dup	NP_001336642.1:n.602+2dup
NM_001349714.1:c.602+2dup	NP_001336643.1:n.602+2dup
NM_001349715.1:c.935+2dup	NP_001336644.1:n.935+2dup
NM_001349716.1:c.914+2dup	NP_001336645.1:n.914+2dup
NM_001349717.1:c.680+2dup	NP_001336646.1:n.680+2dup
NM_016011.4:c.830+2dup	NP_057095.4:n.830+2dup
NR_146212.1:n.1011dup
NR_146213.1:n.882+2dup
NR_146214.1:n.1135+2dup
NR_146215.1:n.1009+2dup
XM_011541540.2:c.975+2dup	XP_011539842.1:n.975+2dup
XM_017001411.1:c.747+2dup	XP_016856900.1:n.747+2dup
XM_017001412.1:c.747+2dup	XP_016856901.1:n.747+2dup
XM_017001413.1:c.602+2dup	XP_016856902.1:n.602+2dup
XM_017001416.1:c.602+2dup	XP_016856905.1:n.602+2dup
XM_024447442.1:c.602+2dup	XP_024303210.1:n.602+2dup
XM_024447443.1:c.602+2dup	XP_024303211.1:n.602+2dup
XM_024447444.1:c.602+2dup	XP_024303212.1:n.602+2dup
XM_024447446.1:c.602+2dup	XP_024303214.1:n.602+2dup
XM_024447448.1:c.602+2dup	XP_024303216.1:n.602+2dup
XM_024447450.1:c.602+2dup	XP_024303218.1:n.602+2dup
XM_024447452.1:c.602+2dup	XP_024303220.1:n.602+2dup
XR_001737209.1:n.1079dup
XR_001737210.1:n.1348dup
XR_002956765.1:n.980+2dup
XR_946663.2:n.1077+2dup
NM_001024732.4:c.602+2dup	NP_001019903.3:n.602+2dup
NM_001349711.2:c.602+2dup	NP_001336640.1:n.602+2dup
NM_001349712.2:c.602+2dup	NP_001336641.1:n.602+2dup
NM_001349713.2:c.602+2dup	NP_001336642.1:n.602+2dup
NM_001349714.2:c.602+2dup	NP_001336643.1:n.602+2dup
NM_001349715.2:c.935+2dup	NP_001336644.1:n.935+2dup
NM_001349716.2:c.914+2dup	NP_001336645.1:n.914+2dup
NM_001349717.2:c.680+2dup	NP_001336646.1:n.680+2dup
NM_016011.5:c.830+2dup MANE Select	NP_057095.4:n.830+2dup
NR_146212.2:n.987dup
NR_146213.2:n.858+2dup
NR_146214.2:n.1111+2dup
NR_146215.2:n.985+2dup