Canonical Allele Identifier: CA500851044
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48273015A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195654A>C , CM000679.2:g.50195654A>C GRCh38
NC_000017.10:g.48273015A>C , CM000679.1:g.48273015A>C GRCh37
NC_000017.9:g.45628014A>C NCBI36
NG_007400.1:g.10986T>G , LRG_1:g.10986T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1068T>G MANE Select ENSP00000225964.6:p.Gly356=
ENST00000225964.9:c.1068T>G ENSP00000225964.5:p.Gly356=
ENST00000471344.1:n.12T>G
NM_000088.3:c.1068T>G , LRG_1t1:c.1068T>G NP_000079.2:p.Gly356=
XM_005257058.3:c.1068T>G XP_005257115.2:p.Gly356=
XM_005257059.3:c.957+660T>G XP_005257116.2:n.957+660T>G
XM_011524341.1:c.958-176T>G XP_011522643.1:n.958-176T>G
XM_005257058.4:c.1068T>G XP_005257115.2:p.Gly356=
XM_005257059.4:c.957+660T>G XP_005257116.2:n.957+660T>G
NM_000088.4:c.1068T>G MANE Select NP_000079.2:p.Gly356=
Search 100 bp 5'
Search 100 bp 3'