Canonical Allele Identifier: CA381939173

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925667G>T (hg19) ; chr11:g.77214622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214622G>T , CM000673.2:g.77214622G>T	GRCh38
NC_000011.9:g.76925667G>T , CM000673.1:g.76925667G>T	GRCh37
NC_000011.8:g.76603315G>T	NCBI36
NG_009086.1:g.91358G>T
NG_009086.2:g.91377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6574G>T MANE Select	ENSP00000386331.3:p.Asp2192Tyr
ENST00000670577.1:c.4375G>T
ENST00000409619.6:c.6427G>T	ENSP00000386635.2:p.Asp2143Tyr
ENST00000409709.7:c.6574G>T	ENSP00000386331.3:p.Asp2192Tyr
ENST00000458169.2:c.4000G>T	ENSP00000417017.2:p.Asp1334Tyr
ENST00000458637.6:c.6454G>T	ENSP00000392185.2:p.Asp2152Tyr
ENST00000481328.7:n.5124G>T
ENST00000605744.1:n.2088G>T
NM_000260.3:c.6574G>T	NP_000251.3:p.Asp2192Tyr
NM_001127180.1:c.6454G>T	NP_001120652.1:p.Asp2152Tyr
XM_005274012.2:c.6457G>T	XP_005274069.1:p.Asp2153Tyr
XM_006718561.2:c.6460G>T	XP_006718624.1:p.Asp2154Tyr
XR_949941.1:n.6868G>T
XM_017017780.1:c.6664G>T	XP_016873269.1:p.Asp2222Tyr
XM_017017784.1:c.6547G>T	XP_016873273.1:p.Asp2183Tyr
XM_017017788.1:c.6550G>T	XP_016873277.1:p.Asp2184Tyr
XR_001747885.1:n.6653G>T
XR_001747887.1:n.6639G>T
NM_000260.4:c.6574G>T MANE Select	NP_000251.3:p.Asp2192Tyr
NM_001127180.2:c.6454G>T	NP_001120652.1:p.Asp2152Tyr
NM_001369365.1:c.6427G>T	NP_001356294.1:p.Asp2143Tyr