Canonical Allele Identifier: CA383682545

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083523T>C (hg19) ; chr12:g.6974361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974361T>C , CM000674.2:g.6974361T>C	GRCh38
NC_000012.11:g.7083523T>C , CM000674.1:g.7083523T>C	GRCh37
NC_000012.10:g.6953784T>C	NCBI36
NG_021408.1:g.8581T>C
NG_021408.2:g.8581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.191T>C MANE Select	ENSP00000470560.1:p.Leu64Pro
ENST00000261406.7:c.173T>C	ENSP00000476966.2:p.Leu58Pro
ENST00000539196.2:c.54T>C
ENST00000599672.5:c.191T>C	ENSP00000470560.1:p.Leu64Pro
ENST00000607161.5:c.194T>C	ENSP00000480420.1:p.Leu65Pro
ENST00000611981.1:n.202T>C
ENST00000620255.1:n.180T>C
NM_006331.7:c.191T>C	NP_006322.4:p.Leu64Pro
XM_011520907.1:c.191T>C	XP_011519209.1:p.Leu64Pro
NM_001320049.1:c.191T>C	NP_001306978.1:p.Leu64Pro
NR_135131.1:n.334T>C
NM_006331.8:c.191T>C MANE Select	NP_006322.4:p.Leu64Pro
NM_001320049.2:c.191T>C	NP_001306978.1:p.Leu64Pro
NR_135131.2:n.202T>C