Canonical Allele Identifier: CA360403202

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90725568-T-C
• MyVariant Identifiers: chr5:g.90021385T>C (hg19) ; chr5:g.90725568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725568T>C , CM000667.2:g.90725568T>C	GRCh38
NC_000005.9:g.90021385T>C , CM000667.1:g.90021385T>C	GRCh37
NC_000005.8:g.90057141T>C	NCBI36
NG_007083.1:g.171769T>C
NG_007083.2:g.201225T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.10073T>C MANE Select	ENSP00000384582.2:p.Leu3358Pro
ENST00000639431.1:c.265+49359T>C	ENSP00000491057.1:n.265+49359T>C
ENST00000640374.1:n.3217T>C
ENST00000640464.1:n.492T>C
ENST00000405460.6:c.10073T>C	ENSP00000384582.2:p.Leu3358Pro
ENST00000509621.1:c.2770T>C
NM_032119.3:c.10073T>C	NP_115495.3:p.Leu3358Pro
NR_003149.1:n.10086T>C
XM_011543675.1:c.10070T>C	XP_011541977.1:p.Leu3357Pro
XM_011543676.1:c.9992T>C	XP_011541978.1:p.Leu3331Pro
XM_011543677.1:c.7376T>C	XP_011541979.1:p.Leu2459Pro
XM_011543678.1:c.10073T>C	XP_011541980.1:p.Leu3358Pro
XM_011543679.1:c.10073T>C	XP_011541981.1:p.Leu3358Pro
XR_948560.1:n.272-9759A>G
NM_032119.4:c.10073T>C MANE Select	NP_115495.3:p.Leu3358Pro
XM_017009963.2:c.10094T>C	XP_016865452.1:p.Leu3365Pro
XM_017009964.2:c.10091T>C	XP_016865453.1:p.Leu3364Pro
XM_017009965.1:c.10091T>C	XP_016865454.1:p.Leu3364Pro
XM_017009966.2:c.10013T>C	XP_016865455.1:p.Leu3338Pro
XM_017009967.1:c.9998T>C	XP_016865456.1:p.Leu3333Pro
XM_017009968.2:c.10094T>C	XP_016865457.1:p.Leu3365Pro
XM_017009969.2:c.10094T>C	XP_016865458.1:p.Leu3365Pro
XM_017009970.2:c.10094T>C	XP_016865459.1:p.Leu3365Pro
XM_017009971.2:c.10094T>C	XP_016865460.1:p.Leu3365Pro
XM_017009972.1:c.3212T>C	XP_016865461.1:p.Leu1071Pro
XM_017009973.1:c.3191T>C	XP_016865462.1:p.Leu1064Pro
XM_017009974.2:c.10094T>C	XP_016865463.1:p.Leu3365Pro
XR_001742802.1:n.2523-9759A>G
NR_003149.2:n.10089T>C