Canonical Allele Identifier: CA394602621

Gene: PAM16 CORO7-PAM16

Linked Data

• dbSNP Id: rs2053634402
• gnomAD v4: 16-4340930-A-G
• MyVariant Identifiers: chr16:g.4390931A>G (hg19) ; chr16:g.4340930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340930A>G , CM000678.2:g.4340930A>G	GRCh38
NC_000016.9:g.4390931A>G , CM000678.1:g.4390931A>G	GRCh37
NC_000016.8:g.4330932A>G	NCBI36
NG_016391.1:g.13707A>G
NG_016391.2:g.31170A>G
NG_054893.1:g.15443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.281T>C (PAM16) MANE Select	ENSP00000315693.3:p.Leu94Pro
ENST00000318059.7:c.281T>C (PAM16)	ENSP00000315693.3:p.Leu94Pro
ENST00000571178.1:c.255T>C (PAM16)
ENST00000571941.5:c.341T>C (PAM16)	ENSP00000460708.1:p.Leu114Pro
ENST00000571986.5:c.*174T>C (PAM16)	ENSP00000459802.1:n.*174T>C
ENST00000572467.5:c.3050T>C (CORO7-PAM16)	ENSP00000460885.1:p.Leu1017Pro
ENST00000573236.5:n.537T>C (PAM16)
ENST00000573450.5:n.414T>C (PAM16)
ENST00000573553.5:c.341T>C (PAM16)	ENSP00000459955.1:p.Leu114Pro
ENST00000573614.5:n.485T>C (PAM16)
ENST00000575334.5:c.*1576T>C (CORO7-PAM16)	ENSP00000458607.1:n.*1576T>C
ENST00000575636.5:c.*174T>C (PAM16)	ENSP00000458914.1:n.*174T>C
ENST00000575848.5:c.317T>C (PAM16)	ENSP00000458412.1:p.Leu106Pro
ENST00000576217.1:c.281T>C (PAM16)	ENSP00000461047.1:p.Leu94Pro
ENST00000577031.5:c.281T>C (PAM16)	ENSP00000459113.1:p.Leu94Pro
NM_001201479.1:c.3050T>C (CORO7-PAM16)	NP_001188408.1:p.Leu1017Pro
NM_016069.9:c.281T>C (PAM16)	NP_057153.8:p.Leu94Pro
NM_016069.10:c.281T>C (PAM16)	NP_057153.8:p.Leu94Pro
NM_016069.11:c.281T>C (PAM16) MANE Select	NP_057153.8:p.Leu94Pro
NM_001201479.2:c.3050T>C (CORO7-PAM16)	NP_001188408.1:p.Leu1017Pro