Canonical Allele Identifier: CA11093460

Gene: MYO1B

Linked Data

• dbSNP Id: rs1823913
• gnomAD v2: 2-192118047-T-C
• gnomAD v3: 2-191253321-T-C
• gnomAD v4: 2-191253321-T-C
• MyVariant Identifiers: chr2:g.192118047T>C (hg19) ; chr2:g.191253321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191253321T>C , CM000664.2:g.191253321T>C	GRCh38
NC_000002.11:g.192118047T>C , CM000664.1:g.192118047T>C	GRCh37
NC_000002.10:g.191826292T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392318.8:c.-10+7695T>C MANE Select	ENSP00000376132.3:n.-10+7695T>C
ENST00000304164.8:c.-10+7710T>C	ENSP00000306382.4:n.-10+7710T>C
ENST00000339514.8:c.-10+7695T>C	ENSP00000341903.4:n.-10+7695T>C
ENST00000392318.7:c.-10+7695T>C	ENSP00000376132.3:n.-10+7695T>C
ENST00000418908.5:c.-10+8064T>C	ENSP00000401324.1:n.-10+8064T>C
ENST00000438652.5:c.-10+6954T>C	ENSP00000399459.1:n.-10+6954T>C
NM_001130158.1:c.-10+7695T>C	NP_001123630.1:n.-10+7695T>C
NM_001161819.1:c.-10+7710T>C	NP_001155291.1:n.-10+7710T>C
NM_012223.3:c.-10+7695T>C	NP_036355.2:n.-10+7695T>C
XM_006712536.1:c.-10+6954T>C	XP_006712599.1:n.-10+6954T>C
XM_011511213.1:c.-10+8064T>C	XP_011509515.1:n.-10+8064T>C
NM_001130158.2:c.-10+7695T>C	NP_001123630.1:n.-10+7695T>C
NM_001161819.2:c.-10+7710T>C	NP_001155291.1:n.-10+7710T>C
NM_001330237.1:c.-10+7695T>C	NP_001317166.1:n.-10+7695T>C
NM_001330238.1:c.-10+7695T>C	NP_001317167.1:n.-10+7695T>C
NM_012223.4:c.-10+7695T>C	NP_036355.2:n.-10+7695T>C
XM_024452914.1:c.51+5313T>C	XP_024308682.1:n.51+5313T>C
XM_024452915.1:c.51+5313T>C	XP_024308683.1:n.51+5313T>C
NM_001130158.3:c.-10+7695T>C MANE Select	NP_001123630.1:n.-10+7695T>C
NM_001161819.3:c.-10+7710T>C	NP_001155291.1:n.-10+7710T>C
NM_001330237.2:c.-10+7695T>C	NP_001317166.1:n.-10+7695T>C
NM_001330238.2:c.-10+7695T>C	NP_001317167.1:n.-10+7695T>C
NM_012223.5:c.-10+7695T>C	NP_036355.2:n.-10+7695T>C