Canonical Allele Identifier: CA383683420

Gene: EMG1

Linked Data

• dbSNP Id: rs1736853731
• MyVariant Identifiers: chr12:g.7083729A>C (hg19) ; chr12:g.6974567A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974567A>C , CM000674.2:g.6974567A>C	GRCh38
NC_000012.11:g.7083729A>C , CM000674.1:g.7083729A>C	GRCh37
NC_000012.10:g.6953990A>C	NCBI36
NG_021408.1:g.8787A>C
NG_021408.2:g.8787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.286A>C MANE Select	ENSP00000470560.1:p.Met96Leu
ENST00000261406.7:c.268A>C	ENSP00000476966.2:p.Met90Leu
ENST00000539196.2:c.149A>C
ENST00000599672.5:c.286A>C	ENSP00000470560.1:p.Met96Leu
ENST00000607161.5:c.289A>C	ENSP00000480420.1:p.Met97Leu
ENST00000611981.1:n.297A>C
ENST00000620255.1:n.386A>C
NM_006331.7:c.286A>C	NP_006322.4:p.Met96Leu
XM_011520907.1:c.286A>C	XP_011519209.1:p.Met96Leu
NM_001320049.1:c.286A>C	NP_001306978.1:p.Met96Leu
NR_135131.1:n.429A>C
NM_006331.8:c.286A>C MANE Select	NP_006322.4:p.Met96Leu
NM_001320049.2:c.286A>C	NP_001306978.1:p.Met96Leu
NR_135131.2:n.297A>C