Canonical Allele Identifier: CA507690415

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 461770
• ClinVar RCV Id: RCV000550636
• dbSNP Id: rs1555755825
• MyVariant Identifiers: chr19:g.41860787G>A (hg19) ; chr19:g.41354882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354882G>A , CM000681.2:g.41354882G>A	GRCh38
NC_000019.9:g.41860787G>A , CM000681.1:g.41860787G>A	GRCh37
NC_000019.8:g.46552627G>A	NCBI36
NG_013091.1:g.14292C>T
NG_013364.1:g.4045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.346C>T (B9D2) MANE Select	ENSP00000243578.2:p.Leu116=
ENST00000675972.1:c.346C>T (B9D2)	ENSP00000501911.1:p.Leu116=
ENST00000243578.7:c.346C>T (B9D2)	ENSP00000243578.2:p.Leu116=
ENST00000539627.5:c.-30+3680G>A (TMEM91)	ENSP00000441900.1:n.-30+3680G>A
ENST00000594416.1:c.*192C>T (B9D2)	ENSP00000469666.1:n.*192C>T
ENST00000604123.5:c.142+567G>A (TMEM91)	ENSP00000474871.1:n.142+567G>A
ENST00000604424.1:n.350+3680G>A
NM_030578.3:c.346C>T (B9D2)	NP_085055.2:p.Leu116=
XM_006723405.1:c.220C>T (B9D2)	XP_006723468.1:p.Leu74=
XM_011527349.1:c.346C>T (B9D2)	XP_011525651.1:p.Leu116=
XM_011527350.1:c.187C>T (B9D2)	XP_011525652.1:p.Leu63=
XM_011527349.2:c.346C>T (B9D2)	XP_011525651.1:p.Leu116=
XM_011527350.2:c.187C>T (B9D2)	XP_011525652.1:p.Leu63=
NM_030578.4:c.346C>T (B9D2) MANE Select	NP_085055.2:p.Leu116=