Canonical Allele Identifier: CA248850

Gene: CORO7 CORO7-PAM16 PAM16

Linked Data

• ClinVar Variation Id: 218341
• ClinVar RCV Id: RCV000202599
• dbSNP Id: rs1555468179
• MyVariant Identifiers: chr16:g.4405237G>A (hg19) ; chr16:g.4355236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4355236G>A , CM000678.2:g.4355236G>A	GRCh38
NC_000016.9:g.4405237G>A , CM000678.1:g.4405237G>A	GRCh37
NC_000016.8:g.4345238G>A	NCBI36
NG_052966.1:g.66726C>T
NG_054893.1:g.1137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251166.9:c.2772+50C>T (CORO7) MANE Select	ENSP00000251166.4:n.2772+50C>T
ENST00000251166.8:c.2772+50C>T (CORO7)	ENSP00000251166.4:n.2772+50C>T
ENST00000537233.6:c.2718+50C>T (CORO7)	ENSP00000440460.2:n.2718+50C>T
ENST00000570779.1:c.449C>T (CORO7)	ENSP00000460956.1:p.Thr150Ile
ENST00000571227.5:c.*2708+50C>T (CORO7)	ENSP00000458459.1:n.*2708+50C>T
ENST00000572274.1:n.490+50C>T (CORO7-PAM16)
ENST00000572467.5:c.2772+50C>T (CORO7-PAM16)	ENSP00000460885.1:n.2772+50C>T
ENST00000574025.5:c.2517+50C>T (CORO7)	ENSP00000461702.1:n.2517+50C>T
ENST00000575334.5:c.*1219+50C>T (CORO7-PAM16)	ENSP00000458607.1:n.*1219+50C>T
ENST00000576217.1:c.-29+353C>T (PAM16)	ENSP00000461047.1:n.-29+353C>T
ENST00000576637.1:c.534+50C>T (CORO7)
NM_001201472.1:c.2718+50C>T (CORO7)	NP_001188401.1:n.2718+50C>T
NM_001201473.1:c.2517+50C>T (CORO7)	NP_001188402.1:n.2517+50C>T
NM_001201479.1:c.2772+50C>T (CORO7-PAM16)	NP_001188408.1:n.2772+50C>T
NM_024535.4:c.2772+50C>T (CORO7)	NP_078811.3:n.2772+50C>T
NM_001351729.1:c.2112+50C>T (CORO7)	NP_001338658.1:n.2112+50C>T
NM_024535.5:c.2772+50C>T (CORO7) MANE Select	NP_078811.3:n.2772+50C>T
NM_001201472.2:c.2718+50C>T (CORO7)	NP_001188401.1:n.2718+50C>T
NM_001201473.2:c.2517+50C>T (CORO7)	NP_001188402.1:n.2517+50C>T
NM_001201479.2:c.2772+50C>T (CORO7-PAM16)	NP_001188408.1:n.2772+50C>T
NM_001351729.2:c.2112+50C>T (CORO7)	NP_001338658.1:n.2112+50C>T