Canonical Allele Identifier: CA383797363
Community Standard Title: NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)
Gene: NECAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8090215C>T , CM000674.2:g.8090215C>T GRCh38
NC_000012.11:g.8242811C>T , CM000674.1:g.8242811C>T GRCh37
NC_000012.10:g.8134078C>T NCBI36
NG_034155.1:g.13005C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015509.4:c.217C>T MANE Select NP_056324.2:p.Pro73Ser
ENST00000339754.11:c.217C>T MANE Select ENSP00000341737.5:p.Pro73Ser
NM_015509.3:c.217C>T NP_056324.2:p.Pro73Ser
NR_024260.1:n.295C>T
NR_024260.2:n.232C>T
ENST00000339754.9:c.217C>T ENSP00000341737.5:p.Pro73Ser
ENST00000450991.6:c.217C>T ENSP00000401963.2:p.Pro73Ser
ENST00000537796.2:n.226C>T
ENST00000540083.1:c.-210C>T ENSP00000439319.1:n.-210C>T
ENST00000541948.1:c.217C>T ENSP00000440658.1:p.Pro73Ser
ENST00000541948.2:c.217C>T ENSP00000440658.2:p.Pro73Ser
ENST00000542095.5:n.251C>T
ENST00000542095.6:n.251C>T
ENST00000544891.5:n.236C>T
ENST00000544891.6:n.226C>T
ENST00000545807.5:n.396C>T
ENST00000545807.6:n.356C>T
ENST00000546181.1:n.436C>T
ENST00000546181.2:n.436C>T
ENST00000638237.1:c.217C>T ENSP00000492254.1:p.Pro73Ser
ENST00000638787.1:c.217C>T ENSP00000491384.1:p.Pro73Ser
ENST00000638883.1:n.215C>T
ENST00000639038.1:c.217C>T ENSP00000492452.1:p.Pro73Ser
ENST00000639071.1:n.232C>T
ENST00000639167.1:c.96-2461C>T ENSP00000490999.1:n.96-2461C>T
ENST00000639276.1:n.396C>T
ENST00000639595.1:c.217C>T ENSP00000492560.1:p.Pro73Ser
ENST00000639811.1:c.217C>T ENSP00000492554.1:p.Pro73Ser
ENST00000639955.1:c.217C>T ENSP00000491067.1:p.Pro73Ser
ENST00000640072.1:n.1168C>T
ENST00000640099.1:n.229C>T
ENST00000640209.1:c.217C>T ENSP00000492613.1:p.Pro73Ser
ENST00000640481.1:n.206C>T
ENST00000640648.1:n.611C>T