Canonical Allele Identifier: CA380329376

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441681-T-C
• MyVariant Identifiers: chr11:g.47463233T>C (hg19) ; chr11:g.47441681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441681T>C , CM000673.2:g.47441681T>C	GRCh38
NC_000011.9:g.47463233T>C , CM000673.1:g.47463233T>C	GRCh37
NC_000011.8:g.47419809T>C	NCBI36
NG_008312.1:g.12498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.842A>G MANE Select	ENSP00000298854.2:p.Asn281Ser
ENST00000298854.6:c.842A>G	ENSP00000298854.2:p.Asn281Ser
ENST00000352508.7:c.789+142A>G	ENSP00000298853.3:n.789+142A>G
ENST00000524487.5:c.683A>G	ENSP00000435551.2:p.Asn228Ser
ENST00000528356.1:n.51A>G
ENST00000529341.1:c.789+142A>G	ENSP00000431732.1:n.789+142A>G
NM_005055.4:c.842A>G	NP_005046.2:p.Asn281Ser
NM_032645.4:c.789+142A>G	NP_116034.2:n.789+142A>G
XM_005253042.2:c.842A>G	XP_005253099.1:p.Asn281Ser
XM_005253043.2:c.789+142A>G	XP_005253100.1:n.789+142A>G
XM_011520252.1:c.842A>G	XP_011518554.1:p.Asn281Ser
XM_011520253.1:c.842A>G	XP_011518555.1:p.Asn281Ser
XM_005253042.3:c.842A>G	XP_005253099.1:p.Asn281Ser
XM_005253043.3:c.789+142A>G	XP_005253100.1:n.789+142A>G
NM_005055.5:c.842A>G MANE Select	NP_005046.2:p.Asn281Ser
NM_032645.5:c.789+142A>G	NP_116034.2:n.789+142A>G