Canonical Allele Identifier: CA146060

Gene: MID1

Linked Data

• ClinVar Variation Id: 92878
• ClinVar RCV Id: RCV000078680 ; RCV000659859 ; RCV000950878 ; RCV002311555
• dbSNP Id: rs147106995
• ExAC: X:10417412 G / A
• gnomAD v2: X-10417412-G-A
• gnomAD v3: X-10449372-G-A
• gnomAD v4: X-10449372-G-A
• MyVariant Identifiers: chrX:g.10417412G>A (hg19) ; chrX:g.10449372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10449372G>A , CM000685.2:g.10449372G>A	GRCh38
NC_000023.10:g.10417412G>A , CM000685.1:g.10417412G>A	GRCh37
NC_000023.9:g.10377412G>A	NCBI36
NG_008197.1:g.389319C>T
NG_008197.2:g.389319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413894.6:c.2000C>T	ENSP00000391154.2:p.Pro667Leu
ENST00000689773.1:c.1886C>T	ENSP00000509925.1:p.Pro629Leu
ENST00000690004.1:c.1886C>T	ENSP00000509730.1:p.Pro629Leu
ENST00000691943.1:c.1892C>T	ENSP00000508663.1:p.Pro631Leu
ENST00000317552.9:c.2000C>T MANE Select	ENSP00000312678.4:p.Pro667Leu
ENST00000675073.1:c.2153C>T	ENSP00000501707.1:p.Pro718Leu
ENST00000317552.8:c.2000C>T	ENSP00000312678.4:p.Pro667Leu
ENST00000380779.5:c.2000C>T	ENSP00000370156.1:p.Pro667Leu
ENST00000380780.5:c.2000C>T	ENSP00000370157.1:p.Pro667Leu
ENST00000380782.6:c.*241C>T	ENSP00000370159.1:n.*241C>T
ENST00000380785.5:c.2000C>T	ENSP00000370162.1:p.Pro667Leu
ENST00000380787.5:c.2000C>T	ENSP00000370164.1:p.Pro667Leu
ENST00000453318.6:c.2000C>T	ENSP00000414521.2:p.Pro667Leu
NM_000381.3:c.2000C>T	NP_000372.1:p.Pro667Leu
NM_001098624.2:c.2000C>T	NP_001092094.1:p.Pro667Leu
NM_001193277.1:c.2000C>T	NP_001180206.1:p.Pro667Leu
NM_033289.1:c.1886C>T	NP_150631.1:p.Pro629Leu
NM_033290.3:c.2000C>T	NP_150632.1:p.Pro667Leu
XM_005274536.1:c.2153C>T	XP_005274593.1:p.Pro718Leu
XM_005274537.1:c.2153C>T	XP_005274594.1:p.Pro718Leu
XM_006724492.2:c.2153C>T	XP_006724555.1:p.Pro718Leu
XM_006724493.2:c.2039C>T	XP_006724556.1:p.Pro680Leu
XM_011545525.1:c.2153C>T	XP_011543827.1:p.Pro718Leu
XM_011545526.1:c.2153C>T	XP_011543828.1:p.Pro718Leu
XM_011545527.1:c.2153C>T	XP_011543829.1:p.Pro718Leu
NM_001347733.1:c.2000C>T	NP_001334662.1:p.Pro667Leu
NM_000381.4:c.2000C>T MANE Select	NP_000372.1:p.Pro667Leu
NM_001347733.2:c.2000C>T	NP_001334662.1:p.Pro667Leu
NM_033289.2:c.1886C>T	NP_150631.1:p.Pro629Leu
NM_033290.4:c.2000C>T	NP_150632.1:p.Pro667Leu