Canonical Allele Identifier: CA393175889

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75188554G>C (hg19) ; chr15:g.74896213G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896213G>C , CM000677.2:g.74896213G>C	GRCh38
NC_000015.9:g.75188554G>C , CM000677.1:g.75188554G>C	GRCh37
NC_000015.8:g.72975607G>C	NCBI36
NG_008921.1:g.11145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.732G>C MANE Select	ENSP00000318318.6:p.Gln244His
ENST00000323744.10:c.549G>C	ENSP00000318192.6:p.Gln183His
ENST00000352410.8:c.732G>C	ENSP00000318318.6:p.Gln244His
ENST00000535694.5:c.582G>C	ENSP00000440447.1:p.Gln194His
ENST00000562606.5:c.672G>C	ENSP00000457020.1:p.Gln224His
ENST00000562800.5:c.256-1326G>C	ENSP00000457619.1:n.256-1326G>C
ENST00000563422.5:c.732G>C	ENSP00000457885.1:p.Gln244His
ENST00000563786.5:c.672G>C	ENSP00000455241.1:p.Gln224His
ENST00000564003.5:c.399G>C	ENSP00000454312.1:p.Gln133His
ENST00000566377.5:c.732G>C	ENSP00000455405.1:p.Gln244His
ENST00000566556.1:n.780G>C
ENST00000567177.1:c.510G>C	ENSP00000457013.1:p.Gln170His
ENST00000569931.5:c.672G>C	ENSP00000455161.1:p.Gln224His
NM_001289155.1:c.732G>C	NP_001276084.1:p.Gln244His
NM_001289156.1:c.582G>C	NP_001276085.1:p.Gln194His
NM_001289157.1:c.549G>C	NP_001276086.1:p.Gln183His
NM_002435.2:c.732G>C	NP_002426.1:p.Gln244His
XM_011521592.1:c.720G>C	XP_011519894.1:p.Gln240His
XM_011521593.1:c.672G>C	XP_011519895.1:p.Gln224His
NM_001330372.1:c.672G>C	NP_001317301.1:p.Gln224His
XM_017022208.1:c.672G>C	XP_016877697.1:p.Gln224His
XM_017022209.2:c.582G>C	XP_016877698.1:p.Gln194His
NM_002435.3:c.732G>C MANE Select	NP_002426.1:p.Gln244His
NM_001289155.2:c.732G>C	NP_001276084.1:p.Gln244His
NM_001289156.2:c.582G>C	NP_001276085.1:p.Gln194His
NM_001289157.2:c.549G>C	NP_001276086.1:p.Gln183His
NM_001330372.2:c.672G>C	NP_001317301.1:p.Gln224His