Canonical Allele Identifier: CA2733840001
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs2144582904
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196943A>T , CM000679.2:g.50196943A>T GRCh38
NC_000017.10:g.48274304A>T , CM000679.1:g.48274304A>T GRCh37
NC_000017.9:g.45629303A>T NCBI36
NG_007400.1:g.9697T>A , LRG_1:g.9697T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+67T>A MANE Select ENSP00000225964.6:n.804+67T>A
ENST00000225964.9:c.804+67T>A ENSP00000225964.5:n.804+67T>A
ENST00000495677.1:n.531+67T>A
NM_000088.3:c.804+67T>A , LRG_1t1:c.804+67T>A NP_000079.2:n.804+67T>A
XM_005257058.3:c.804+67T>A XP_005257115.2:n.804+67T>A
XM_005257059.3:c.804+67T>A XP_005257116.2:n.804+67T>A
XM_011524341.1:c.804+67T>A XP_011522643.1:n.804+67T>A
XM_005257058.4:c.804+67T>A XP_005257115.2:n.804+67T>A
XM_005257059.4:c.804+67T>A XP_005257116.2:n.804+67T>A
NM_000088.4:c.804+67T>A MANE Select NP_000079.2:n.804+67T>A
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