Canonical Allele Identifier: CA339540813

Gene: MECR

Linked Data

• gnomAD v4: 1-29201941-A-G
• MyVariant Identifiers: chr1:g.29528453A>G (hg19) ; chr1:g.29201941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.29201941A>G , CM000663.2:g.29201941A>G	GRCh38
NC_000001.10:g.29528453A>G , CM000663.1:g.29528453A>G	GRCh37
NC_000001.9:g.29401040A>G	NCBI36
NG_053058.1:g.34018T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263702.11:c.756+2T>C MANE Select	ENSP00000263702.6:n.756+2T>C
ENST00000263702.10:c.756+2T>C	ENSP00000263702.6:n.756+2T>C
ENST00000373791.7:c.528+2T>C	ENSP00000362896.3:n.528+2T>C
ENST00000453185.5:n.273+2T>C
ENST00000463412.1:c.375+2T>C	ENSP00000436831.1:n.375+2T>C
ENST00000464511.1:n.143+2T>C
ENST00000473030.5:n.405+2T>C
ENST00000475773.5:n.174+2T>C
ENST00000478505.6:n.655+2T>C
ENST00000490529.5:n.641+2T>C
NM_001024732.2:c.528+2T>C	NP_001019903.2:n.528+2T>C
NM_016011.3:c.756+2T>C	NP_057095.3:n.756+2T>C
XM_005245885.1:c.840+2T>C	XP_005245942.1:n.840+2T>C
XM_005245887.1:c.528+2T>C	XP_005245944.1:n.528+2T>C
XM_011541539.1:c.840+2T>C	XP_011539841.1:n.840+2T>C
XM_011541540.1:c.756+2T>C	XP_011539842.1:n.756+2T>C
XM_011541541.1:c.840+2T>C	XP_011539843.1:n.840+2T>C
XM_011541542.1:c.528+2T>C	XP_011539844.1:n.528+2T>C
XM_011541543.1:c.528+2T>C	XP_011539845.1:n.528+2T>C
XM_011541544.1:c.528+2T>C	XP_011539846.1:n.528+2T>C
XM_011541545.1:c.528+2T>C	XP_011539847.1:n.528+2T>C
XM_011541546.1:c.528+2T>C	XP_011539848.1:n.528+2T>C
XM_011541547.1:c.528+2T>C	XP_011539849.1:n.528+2T>C
XM_011541548.1:c.528+2T>C	XP_011539850.1:n.528+2T>C
XM_011541549.1:c.528+2T>C	XP_011539851.1:n.528+2T>C
XM_011541550.1:c.528+2T>C	XP_011539852.1:n.528+2T>C
XM_011541551.1:c.528+2T>C	XP_011539853.1:n.528+2T>C
XM_011541552.1:c.528+2T>C	XP_011539854.1:n.528+2T>C
XM_011541553.1:c.528+2T>C	XP_011539855.1:n.528+2T>C
XM_011541554.1:c.528+2T>C	XP_011539856.1:n.528+2T>C
XR_946662.1:n.858+2T>C
XR_946663.1:n.858+2T>C
XR_946664.1:n.755+2T>C
NM_001024732.3:c.528+2T>C	NP_001019903.3:n.528+2T>C
NM_001349711.1:c.528+2T>C	NP_001336640.1:n.528+2T>C
NM_001349712.1:c.528+2T>C	NP_001336641.1:n.528+2T>C
NM_001349713.1:c.528+2T>C	NP_001336642.1:n.528+2T>C
NM_001349714.1:c.528+2T>C	NP_001336643.1:n.528+2T>C
NM_001349715.1:c.861+2T>C	NP_001336644.1:n.861+2T>C
NM_001349716.1:c.840+2T>C	NP_001336645.1:n.840+2T>C
NM_001349717.1:c.606+2T>C	NP_001336646.1:n.606+2T>C
NM_016011.4:c.756+2T>C	NP_057095.4:n.756+2T>C
NR_146212.1:n.935+2T>C
NR_146213.1:n.808+2T>C
NR_146214.1:n.916+2T>C
NR_146215.1:n.935+2T>C
XM_011541540.2:c.756+2T>C	XP_011539842.1:n.756+2T>C
XM_017001411.1:c.528+2T>C	XP_016856900.1:n.528+2T>C
XM_017001412.1:c.528+2T>C	XP_016856901.1:n.528+2T>C
XM_017001413.1:c.528+2T>C	XP_016856902.1:n.528+2T>C
XM_017001416.1:c.528+2T>C	XP_016856905.1:n.528+2T>C
XM_024447442.1:c.528+2T>C	XP_024303210.1:n.528+2T>C
XM_024447443.1:c.528+2T>C	XP_024303211.1:n.528+2T>C
XM_024447444.1:c.528+2T>C	XP_024303212.1:n.528+2T>C
XM_024447446.1:c.528+2T>C	XP_024303214.1:n.528+2T>C
XM_024447448.1:c.528+2T>C	XP_024303216.1:n.528+2T>C
XM_024447450.1:c.528+2T>C	XP_024303218.1:n.528+2T>C
XM_024447452.1:c.528+2T>C	XP_024303220.1:n.528+2T>C
XR_001737209.1:n.858+2T>C
XR_001737210.1:n.1127+2T>C
XR_002956765.1:n.906+2T>C
XR_946663.2:n.858+2T>C
NM_001024732.4:c.528+2T>C	NP_001019903.3:n.528+2T>C
NM_001349711.2:c.528+2T>C	NP_001336640.1:n.528+2T>C
NM_001349712.2:c.528+2T>C	NP_001336641.1:n.528+2T>C
NM_001349713.2:c.528+2T>C	NP_001336642.1:n.528+2T>C
NM_001349714.2:c.528+2T>C	NP_001336643.1:n.528+2T>C
NM_001349715.2:c.861+2T>C	NP_001336644.1:n.861+2T>C
NM_001349716.2:c.840+2T>C	NP_001336645.1:n.840+2T>C
NM_001349717.2:c.606+2T>C	NP_001336646.1:n.606+2T>C
NM_016011.5:c.756+2T>C MANE Select	NP_057095.4:n.756+2T>C
NR_146212.2:n.911+2T>C
NR_146213.2:n.784+2T>C
NR_146214.2:n.892+2T>C
NR_146215.2:n.911+2T>C