Canonical Allele Identifier: CA260312
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35921
ClinVar RCV Id: RCV000029576
dbSNP Id: rs193922155

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199329T>C , CM000679.2:g.50199329T>C GRCh38
NC_000017.10:g.48276690T>C , CM000679.1:g.48276690T>C GRCh37
NC_000017.9:g.45631689T>C NCBI36
NG_007400.1:g.7311A>G , LRG_1:g.7311A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.370-2A>G MANE Select ENSP00000225964.6:n.370-2A>G
ENST00000225964.9:c.370-2A>G ENSP00000225964.5:n.370-2A>G
ENST00000474644.1:n.591-2A>G
ENST00000507689.1:c.424-2A>G ENSP00000460459.1:n.424-2A>G
NM_000088.3:c.370-2A>G , LRG_1t1:c.370-2A>G NP_000079.2:n.370-2A>G
XM_005257058.3:c.370-2A>G XP_005257115.2:n.370-2A>G
XM_005257059.3:c.370-2A>G XP_005257116.2:n.370-2A>G
XM_011524341.1:c.370-2A>G XP_011522643.1:n.370-2A>G
XM_005257058.4:c.370-2A>G XP_005257115.2:n.370-2A>G
XM_005257059.4:c.370-2A>G XP_005257116.2:n.370-2A>G
NM_000088.4:c.370-2A>G MANE Select NP_000079.2:n.370-2A>G