Canonical Allele Identifier: CA381935551

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211176-T-C
• MyVariant Identifiers: chr11:g.76922221T>C (hg19) ; chr11:g.77211176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211176T>C , CM000673.2:g.77211176T>C	GRCh38
NC_000011.9:g.76922221T>C , CM000673.1:g.76922221T>C	GRCh37
NC_000011.8:g.76599869T>C	NCBI36
NG_009086.1:g.87912T>C
NG_009086.2:g.87931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6076T>C MANE Select	ENSP00000386331.3:p.Tyr2026His
ENST00000670577.1:c.3877T>C
ENST00000409619.6:c.5929T>C	ENSP00000386635.2:p.Tyr1977His
ENST00000409709.7:c.6076T>C	ENSP00000386331.3:p.Tyr2026His
ENST00000458169.2:c.3502T>C	ENSP00000417017.2:p.Tyr1168His
ENST00000458637.6:c.5962T>C	ENSP00000392185.2:p.Tyr1988His
ENST00000481328.7:n.3612T>C
ENST00000526863.2:n.25+265T>C
ENST00000605744.1:n.1543T>C
NM_000260.3:c.6076T>C	NP_000251.3:p.Tyr2026His
NM_001127180.1:c.5962T>C	NP_001120652.1:p.Tyr1988His
XM_005274012.2:c.5959T>C	XP_005274069.1:p.Tyr1987His
XM_006718558.2:c.6067T>C	XP_006718621.1:p.Tyr2023His
XM_006718559.2:c.5962T>C	XP_006718622.1:p.Tyr1988His
XM_006718560.2:c.5959T>C	XP_006718623.1:p.Tyr1987His
XM_006718561.2:c.5962T>C	XP_006718624.1:p.Tyr1988His
XM_011545044.1:c.6076T>C	XP_011543346.1:p.Tyr2026His
XM_011545045.1:c.6070T>C	XP_011543347.1:p.Tyr2024His
XM_011545046.1:c.6043T>C	XP_011543348.1:p.Tyr2015His
XM_011545047.1:c.5980T>C	XP_011543349.1:p.Tyr1994His
XM_011545048.1:c.5851T>C	XP_011543350.1:p.Tyr1951His
XM_011545049.1:c.5839T>C	XP_011543351.1:p.Tyr1947His
XM_011545050.1:c.5812T>C	XP_011543352.1:p.Tyr1938His
XM_011545051.1:c.6076T>C	XP_011543353.1:p.Tyr2026His
XR_949938.1:n.6396T>C
XR_949941.1:n.6370T>C
XM_011545044.2:c.6076T>C	XP_011543346.1:p.Tyr2026His
XM_011545046.2:c.6166T>C	XP_011543348.2:p.Tyr2056His
XM_011545050.2:c.5812T>C	XP_011543352.1:p.Tyr1938His
XM_017017778.1:c.6160T>C	XP_016873267.1:p.Tyr2054His
XM_017017779.1:c.6157T>C	XP_016873268.1:p.Tyr2053His
XM_017017780.1:c.6166T>C	XP_016873269.1:p.Tyr2056His
XM_017017781.1:c.6070T>C	XP_016873270.1:p.Tyr2024His
XM_017017782.1:c.6052T>C	XP_016873271.1:p.Tyr2018His
XM_017017783.1:c.6049T>C	XP_016873272.1:p.Tyr2017His
XM_017017784.1:c.6049T>C	XP_016873273.1:p.Tyr2017His
XM_017017785.1:c.5929T>C	XP_016873274.1:p.Tyr1977His
XM_017017786.1:c.6166T>C	XP_016873275.1:p.Tyr2056His
XM_017017788.1:c.6052T>C	XP_016873277.1:p.Tyr2018His
XR_001747885.1:n.6155T>C
XR_001747886.1:n.6096T>C
XR_001747887.1:n.6141T>C
NM_000260.4:c.6076T>C MANE Select	NP_000251.3:p.Tyr2026His
NM_001127180.2:c.5962T>C	NP_001120652.1:p.Tyr1988His
NM_001369365.1:c.5929T>C	NP_001356294.1:p.Tyr1977His